# Dante Labs > Clinical-grade genetic testing from an accredited lab. Read your genome once, track your cellular health over time and share every report with your doctor. Each link is the page as markdown. The same URL without `.md` is the HTML page, and every page also answers `Accept: text/markdown`. ## Compare Comparing whole genome sequencing or DNA tests? Each page sets Dante Labs against another test point by point (coverage, lab accreditation, reports, raw data, sample, results time and price), with sources and the date checked. - [Dante Labs vs 23andMe](https://dantelabs.com/dante-labs-vs-23andme.md): 23andMe genotypes hundreds of thousands of markers; Dante Labs sequences all 6.4 billion base pairs at 30X. Compare reports, BRCA coverage, raw data and price. - [Dante Labs vs Nebula Genomics](https://dantelabs.com/dante-labs-vs-nebula.md): Both sequence your whole genome. Compare coverage, lab accreditation, what the reports are for, raw data, the sample, results time and price. - [Dante Labs vs Sequencing.com](https://dantelabs.com/dante-labs-vs-sequencing-com.md): Both sequence your whole genome at 30X. They differ on what the price includes, how reports are sold, the sample, and how long results take. - [Dante Labs vs tellmeGen](https://dantelabs.com/dante-labs-vs-tellmegen.md): Both sequence your whole genome at 30X. Compare lab accreditation, what the reports are for, raw data, results time and price. ## Pages - [Home](https://dantelabs.com/index.md) - [Genome Test](https://dantelabs.com/whole-genome-sequencing.md): Whole genome sequencing at 30X from a CLIA, CAP and ISO 15189 lab. 470+ physician-ready reports that update as research grows, plus raw data you own. - [Cellular Monitoring](https://dantelabs.com/membership.md): Annual membership pairing your genome with cellular monitoring twice a year. Track 42,000 gene expression biomarkers and see how your health changes. - [Genetic Health Conditions](https://dantelabs.com/conditions.md) - [Atlas](https://dantelabs.com/atlas.md) - [Genes](https://dantelabs.com/genes.md) - [Traits](https://dantelabs.com/traits.md) - [Variants](https://dantelabs.com/variants.md) - [Our Science](https://dantelabs.com/our-science.md): ISO 15189, CAP and CLIA accredited lab with 99.98% sequencing accuracy across 100,000+ genomes. Variants classified under ACMG guidelines. - [About Dante Labs](https://dantelabs.com/about.md): Dante Labs is a clinical genomics company founded in 2016 and headquartered in New York City, with an accredited lab and 100,000+ genomes sequenced. - [Clinical Outcomes](https://dantelabs.com/outcomes.md) - [Already Tested?](https://dantelabs.com/upgrade.md) - [FAQ](https://dantelabs.com/faq.md) - [Blog](https://dantelabs.com/blog.md) - [Learn](https://dantelabs.com/learn.md) - [Glossary](https://dantelabs.com/learn/glossary.md) - [Publications](https://dantelabs.com/publications.md) - [Who We Help](https://dantelabs.com/who-we-help.md) - [Hereditary Risk](https://dantelabs.com/who-we-help/hereditary-risk.md): Cancer or heart disease in your family? Whole genome sequencing checks the genes linked to hereditary cancer, cardiac and neurological conditions. - [Unexplained Symptoms](https://dantelabs.com/who-we-help/undiagnosed.md): When standard tests come back normal, whole genome sequencing can uncover the genetic basis of unexplained symptoms. 810+ reports from a single dried blood spot. - [Treatment Not Working](https://dantelabs.com/who-we-help/treatment-not-working.md): A medication that should work doesn't? Pharmacogenomic reports show how your genes may affect your response to common drugs. Share them with your doctor. - [Proactive Health](https://dantelabs.com/who-we-help/proactive.md): You feel fine today. Your genome can tell you what to watch for tomorrow. 810+ clinical reports across cardiac, oncology, neurological, carrier status, and pharmacogenomics. ## Conditions - [BAP1 Tumour Predisposition Syndrome](https://dantelabs.com/conditions/bap1-tumour-predisposition-syndrome.md): An inherited condition caused by variants in BAP1 that raises the risk of eye (uveal) melanoma, skin melanoma, mesothelioma, kidney cancer and basal cell carcinoma. - [Birt-Hogg-Dubé Syndrome](https://dantelabs.com/conditions/birt-hogg-dube-syndrome.md): An inherited condition caused by variants in FLCN that leads to benign skin bumps (fibrofolliculomas), lung cysts that can cause a collapsed lung (pneumothorax), and a raised risk of kidney tumours. - [Bloom Syndrome](https://dantelabs.com/conditions/bloom-syndrome.md): A rare inherited condition causing small body size, sun sensitivity and a greatly increased risk of cancer from an early age. It is caused by changes in both copies of the BLM gene, which helps keep DNA stable when it is copied. - [Breast and Ovarian Cancer Genes Beyond BRCA1/2](https://dantelabs.com/conditions/moderate-penetrance-breast-ovarian-cancer-genes.md): Variants in genes such as CHEK2, ATM, BARD1, RAD51C, RAD51D and BRIP1 raise the risk of breast and/or ovarian cancer, though usually less than BRCA1 or BRCA2 variants do. - [CYLD Cutaneous Syndrome](https://dantelabs.com/conditions/cyld-cutaneous-syndrome.md): An inherited condition caused by variants in CYLD that leads to multiple benign skin-appendage tumours, mainly on the head and neck (Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepithelioma). - [Colorectal Cancer & Polyposis](https://dantelabs.com/conditions/colorectal-cancer-polyposis.md): Malignant growths originating in the colon or rectum (colorectal cancer), often preceded by or associated with the presence of multiple polyps (polyposis) in these areas, some of which are precancerous. - [Cowden Syndrome (PTEN hamartoma tumour syndrome)](https://dantelabs.com/conditions/cowden-syndrome-pten-hamartoma-tumour-syndrome.md): A rare, inherited disorder characterized by multiple benign tumor-like growths (hamartomas) in various tissues, and an increased risk of developing certain cancers, particularly of the breast, thyroid, and endometrium, due to a mutation in the PTEN gene. - [DICER1 Tumour Predisposition](https://dantelabs.com/conditions/dicer1-tumour-predisposition.md): An inherited condition caused by variants in DICER1 that raises the risk of several rare tumours, mostly in childhood and young adulthood, as well as thyroid nodules. - [DNA Repair Disease](https://dantelabs.com/conditions/dna-repair-disease.md): A disease that has its basis in the disruption of DNA repair. - [FANCM-Related Genomic Instability Disorder](https://dantelabs.com/conditions/fancm-related-genomic-instability-disorder.md): A rare inherited condition in which cells are less able to repair certain DNA damage, which may be linked to cancer risk and reduced fertility. It is caused by changes in both copies of the FANCM gene. - [Hereditary Breast and Ovarian Cancer (BRCA1/2)](https://dantelabs.com/conditions/hereditary-breast-ovarian-cancer.md): An inherited predisposition to breast and ovarian cancer, most often caused by variants in BRCA1 or BRCA2. Carriers also have a higher risk of prostate and pancreatic cancer. - [Hereditary Diffuse Gastric Cancer](https://dantelabs.com/conditions/hereditary-diffuse-gastric-cancer.md): An inherited condition, usually caused by variants in CDH1 and less often CTNNA1, that raises the risk of diffuse-type stomach cancer and, in women, lobular breast cancer. - [Hereditary Gastrointestinal Stromal Tumour](https://dantelabs.com/conditions/hereditary-gastrointestinal-stromal-tumour.md): Gastrointestinal stromal tumours (GISTs) are growths of the digestive tract wall. Rarely they run in families because of an inherited change in a gene such as KIT, PDGFRA, SDHB or SDHC, which this report analyses. - [Hereditary Leiomyomatosis and Renal Cell Cancer](https://dantelabs.com/conditions/hereditary-leiomyomatosis-renal-cell-cancer.md): An inherited condition caused by variants in the FH gene that leads to benign smooth-muscle tumours of the skin and uterus and a raised risk of an aggressive type of kidney cancer. - [Hereditary Mixed Polyposis Syndrome](https://dantelabs.com/conditions/hereditary-mixed-polyposis-syndrome.md): An inherited condition causing polyps of different types in the large bowel and an increased risk of colorectal cancer. It is caused by changes that increase the activity of the GREM1 gene, including a duplication near the gene. - [Hereditary Pheochromocytoma and Paraganglioma](https://dantelabs.com/conditions/hereditary-pheochromocytoma-paraganglioma.md): Inherited predisposition to tumours of the adrenal glands (pheochromocytoma) and of nerve tissue in the head, neck, chest and abdomen (paraganglioma), most often caused by variants in the SDH genes, MAX or TMEM127. - [Hereditary Prostate Cancer](https://dantelabs.com/conditions/hereditary-prostate-cancer.md): Prostate cancer that is caused or significantly influenced by inherited genetic mutations, leading to an increased predisposition and often earlier onset in affected individuals and families. - [Hereditary Retinoblastoma](https://dantelabs.com/conditions/hereditary-retinoblastoma.md): An inherited form of retinoblastoma, an eye cancer of early childhood, caused by germline variants in RB1. It often affects both eyes and raises the risk of other cancers later in life, such as sarcomas and melanoma. - [Hereditary Wilms Tumour](https://dantelabs.com/conditions/hereditary-wilms-tumour.md): Inherited predisposition to Wilms tumour, a childhood kidney cancer, including that caused by variants in WT1 or REST. - [Inherited Predisposition to Acute Myeloid Leukaemia](https://dantelabs.com/conditions/inherited-predisposition-to-acute-myeloid-leukaemia.md): Inherited changes in certain genes raise the lifetime chance of developing acute myeloid leukaemia (AML), a cancer of the blood-forming cells. This report covers RUNX1, CEBPA, GATA2, ANKRD26, ETV6, TERT and TERC. - [Inherited Predisposition to Myeloid Blood Cancers](https://dantelabs.com/conditions/germline-predisposition-myeloid-malignancy.md): Inherited variants in genes such as DDX41, GATA2, SAMD9 and SAMD9L raise the risk of myelodysplastic syndrome and acute myeloid leukaemia. - [Juvenile Polyposis Syndrome](https://dantelabs.com/conditions/juvenile-polyposis-syndrome.md): An inherited condition caused by variants in BMPR1A or SMAD4 that leads to multiple juvenile polyps in the stomach and bowel and a raised risk of bowel and stomach cancer. SMAD4 carriers can also have hereditary haemorrhagic telangiectasia. - [Li-Fraumeni Syndrome](https://dantelabs.com/conditions/li-fraumeni-syndrome.md): A rare inherited cancer predisposition, usually caused by variants in TP53, with a very high lifetime risk of cancer, often at a young age. Typical cancers include sarcomas, breast cancer, brain tumours, adrenocortical carcinoma and leukaemia. - [Lung Cancer](https://dantelabs.com/conditions/breast-lung-cancer.md): Inherited susceptibility to lung cancer in genes such as EGFR predispose patients to a lifelong increased risk of lung cancer. - [Lynch Syndrome](https://dantelabs.com/conditions/lynch-syndrome.md): An inherited cancer predisposition caused by faults in DNA mismatch-repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM). It raises the lifetime risk of colorectal and endometrial cancer, as well as ovarian, stomach, urinary tract and other cancers. - [Malignant Endocrine Neoplasm](https://dantelabs.com/conditions/malignant-endocrine-neoplasm.md): A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma. - [Medulloblastoma](https://dantelabs.com/conditions/medulloblastoma.md): Medulloblastoma is a fast-growing, cancerous brain tumour that starts in the cerebellum. Around 5% of cases are linked to hereditary risk factors. - [Melanoma](https://dantelabs.com/conditions/melanoma.md): A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. - [Mosaic Variegated Aneuploidy Syndrome](https://dantelabs.com/conditions/mosaic-variegated-aneuploidy-syndrome.md): A rare recessive condition, caused by variants in genes such as BUB1B, CEP57 or TRIP13, in which many cells have the wrong number of chromosomes. It causes growth restriction and small head size and raises the risk of childhood cancers. - [Myelodysplastic Syndrome (MDS)](https://dantelabs.com/conditions/myelodysplastic-syndrome.md): A group of blood cancers in which the bone marrow makes too few healthy blood cells. Most cases are acquired later in life, but inherited changes in genes such as GATA2 and ERG can raise the risk, often at a younger age. - [NTHL1 Tumour Predisposition Syndrome](https://dantelabs.com/conditions/nthl1-tumour-predisposition-syndrome.md): An inherited condition that increases the risk of colon polyps and bowel cancer, as well as several other cancers. It is caused by changes in both copies of the NTHL1 gene, which repairs damaged DNA. - [Neuroblastoma Predisposition (ALK and PHOX2B)](https://dantelabs.com/conditions/neuroblastoma-predisposition.md): Inherited variants in ALK or PHOX2B that raise the risk of neuroblastoma, a childhood cancer of developing nerve tissue. - [Nevoid Basal Cell Carcinoma (Gorlin) Syndrome](https://dantelabs.com/conditions/nevoid-basal-cell-carcinoma-syndrome.md): An inherited condition caused by variants in PTCH1 or SUFU that leads to multiple basal cell skin cancers, jaw cysts and, in some children, medulloblastoma. - [PALB2 related diseases](https://dantelabs.com/conditions/palb2-related-diseases.md): A group of inherited conditions resulting from mutations in the PALB2 gene, predominantly characterized by an increased predisposition to certain cancers (such as breast, ovarian, and pancreatic cancer) and, in cases of biallelic mutations, Fanconi anemia. - [PAX5-Related Leukaemia Predisposition](https://dantelabs.com/conditions/pax5-related-acute-lymphoblastic-leukaemia-susceptibility.md): An inherited predisposition to B-cell acute lymphoblastic leukaemia (ALL), a blood cancer. It is caused by changes in one copy of the PAX5 gene, which guides B-cell development. - [Perlman Syndrome](https://dantelabs.com/conditions/perlman-syndrome.md): A rare inherited overgrowth condition in which babies are large at birth, have abnormal kidney development and a high risk of Wilms tumour, a childhood kidney cancer. It is caused by changes in both copies of the DIS3L2 gene. - [Peutz-Jeghers Syndrome](https://dantelabs.com/conditions/peutz-jeghers-syndrome.md): An inherited condition caused by variants in STK11 that leads to hamartomatous polyps in the digestive tract, dark freckling of the lips and mouth, and a raised lifetime risk of several cancers. - [Rhabdoid Tumour and SWI/SNF Tumour Predisposition](https://dantelabs.com/conditions/rhabdoid-tumour-predisposition.md): Inherited variants in SMARCB1, SMARCA4 or SMARCE1 that raise the risk of rhabdoid tumours in infancy and, depending on the gene, of certain ovarian tumours or meningiomas. - [Rothmund-Thomson Syndrome](https://dantelabs.com/conditions/rothmund-thomson-syndrome.md): A rare recessive condition, most often caused by variants in RECQL4, with a characteristic facial rash in infancy, skeletal differences and a raised risk of bone cancer (osteosarcoma) and skin cancer. - [Serrated Polyposis Syndrome (RNF43)](https://dantelabs.com/conditions/serrated-polyposis-syndrome-rnf43.md): A condition in which many serrated polyps develop in the bowel, increasing the risk of bowel cancer. Some families have been linked to a change in one copy of the RNF43 gene, a tumour suppressor. - [Thyroid Cancer](https://dantelabs.com/conditions/thyroid-cancer-report.md): A document detailing the epidemiology, diagnosis, treatment, and prognosis of thyroid cancer. - [Uterine Fibroids](https://dantelabs.com/conditions/uterine-fibroids.md): Uterine fibrosis is a common condition found in women over the age of 50. Uterine leiomyomas are typically non-malignant tumours of the uterine myometrium. Tumorigenesis is varied though it is commonly a result of chromosomal abnormalities. The UK Biobank estimates that as much as 69% of the risk is explained by genetic factors. - [Von Hippel-Lindau Disease](https://dantelabs.com/conditions/von-hippel-lindau-disease.md): An inherited condition caused by variants in the VHL gene, which leads to tumours and cysts in several organs. These include haemangioblastomas of the brain, spine and retina, clear cell kidney cancer, phaeochromocytoma and pancreatic tumours. - [Aortic Aneurysm](https://dantelabs.com/conditions/aortic-aneurysm.md): A localized, pathological dilatation of the aorta caused by a weakening of its wall, posing a risk of rupture. Around 20-30% of incidents are related to hereditary predisposition. - [Arrhythmogenic Cardiomyopathy](https://dantelabs.com/conditions/arrhythmogenic-cardiomyopathy.md): Inherited conditions in which heart muscle is gradually replaced by scar and fatty tissue, causing dangerous rhythm problems, usually caused by variants in genes that hold heart cells together. This report includes arrhythmogenic right ventricular cardiomyopathy (ARVC) and related forms with woolly hair and skin thickening, such as Naxos disease and Carvajal syndrome. - [Brugada Syndrome](https://dantelabs.com/conditions/brugada-syndrome.md): A genetic heart condition characterized by specific ECG abnormalities and an increased risk of sudden cardiac death due to ventricular arrhythmias. - [Cantú Syndrome](https://dantelabs.com/conditions/cantu-syndrome.md): A rare condition with excess body hair, distinctive facial features, an enlarged heart and widened blood vessels. It is caused by changes that make a potassium channel overactive, in the ABCC9 or KCNJ8 gene. - [Cardiac-Urogenital Syndrome](https://dantelabs.com/conditions/cardiac-urogenital-syndrome-myrf.md): A rare developmental condition in which the heart, the lungs or diaphragm, and the genitals and urinary tract may form differently before birth. It is caused by changes in one copy of the MYRF gene. - [Catecholaminergic Polymorphic Ventricular Tachycardia](https://dantelabs.com/conditions/catecholaminergic-polymorphic-ventricular-tachycardia.md): An inherited heart rhythm disorder characterized by a rapid, irregular heartbeat (polymorphic ventricular tachycardia) that is triggered by physical exercise, stress, or strong emotions (catecholamine release) and carries a significant risk of sudden cardiac arrest. - [Dilated Cardiomyopathy](https://dantelabs.com/conditions/dilated-cardiomyopathy.md): Inherited conditions in which the main pumping chamber of the heart becomes enlarged and weakened, which can lead to heart failure and rhythm problems. This report sits alongside the separate reports for hypertrophic, arrhythmogenic and restrictive cardiomyopathy and left ventricular noncompaction. - [FLT4-Related Congenital Heart Disease](https://dantelabs.com/conditions/flt4-related-congenital-heart-disease.md): An inherited tendency to heart defects present at birth, including tetralogy of Fallot. It is caused by a change in one copy of the FLT4 gene, and not everyone with the change has a heart defect. - [Familial Atrial Fibrillation](https://dantelabs.com/conditions/familial-atrial-fibrillation.md): Rare single-gene forms of atrial fibrillation, an irregular heart rhythm, that run in families and often start at a younger age than usual. Most atrial fibrillation is not caused by a single gene. - [Hereditary Arterial Calcification](https://dantelabs.com/conditions/hereditary-arterial-calcification.md): Rare recessive conditions in which calcium builds up in the walls of the arteries, either in infancy or in adult life. Carriers of one changed gene copy are usually unaffected. - [Hereditary Hemorrhagic Telangiectasia](https://dantelabs.com/conditions/hereditary-hemorrhagic-telangiectasia.md): A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting. - [Hereditary Vascular Malformations](https://dantelabs.com/conditions/hereditary-vascular-malformations.md): Inherited conditions that cause abnormal blood vessels in the skin and sometimes deeper in the body. Some carry a risk of fast-flow malformations in the brain or spine. - [Heritable Pulmonary Arterial Hypertension (HPAH)](https://dantelabs.com/conditions/heritable-pulmonary-arterial-hypertension-hpah.md): A genetic disorder characterized by high blood pressure in the arteries of the lungs. - [Heterotaxy & Laterality Defects](https://dantelabs.com/conditions/heterotaxy-laterality-defects.md): Inherited conditions in which the organs of the chest and abdomen develop on the wrong side or in an unusual arrangement. Heart defects are common and the spleen may be missing or multiple. - [Hypertrophic Cardiomyopathy](https://dantelabs.com/conditions/hypertrophic-cardiomyopathy.md): A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. - [Inherited Congenital Heart Defects](https://dantelabs.com/conditions/inherited-congenital-heart-defects.md): Single-gene conditions that cause structural heart differences present at birth, such as holes between the heart chambers or narrowed vessels. Some also carry a risk of heart rhythm problems later in life. - [Left Ventricular Noncompaction](https://dantelabs.com/conditions/left-ventricular-noncompaction.md): Inherited conditions in which the inner wall of the left ventricle stays spongy, with deep folds, instead of becoming compact during development. It can be found without symptoms or can lead to heart failure, rhythm problems or blood clots, and often occurs with other cardiomyopathies. - [Loeys-Dietz Syndrome](https://dantelabs.com/conditions/loeys-dietz-syndrome.md): A genetic connective tissue disorder characterized by arterial tortuosity, aneurysms, and dissections, particularly of the aorta, along with skeletal anomalies, craniofacial features, and skin findings. - [Long QT Syndrome](https://dantelabs.com/conditions/long-qt-syndrome.md): A heart rhythm condition in which the heart muscle takes longer than normal to recharge between beats, seen as a prolonged QT interval on an ECG. It can cause fainting, seizures or sudden cardiac arrest, often triggered by exercise, emotion or certain medicines. - [Monogenic Hypertension & Mineralocorticoid Disorders](https://dantelabs.com/conditions/monogenic-hypertension-mineralocorticoid-disorders.md): Inherited conditions that change how the kidneys and adrenal glands handle salt and the hormone aldosterone. They can cause high blood pressure from a young age, or salt loss, and several respond well to specific treatments. - [Moyamoya Disease](https://dantelabs.com/conditions/moyamoya-disease.md): A condition in which the large arteries at the base of the brain gradually narrow, raising the risk of stroke. Inherited susceptibility is most often linked to the RNF213 gene. - [NR2F2-Related Congenital Anomalies Syndrome](https://dantelabs.com/conditions/nr2f2-related-congenital-anomalies-syndrome.md): A rare developmental condition in which the heart, diaphragm and reproductive organs may form differently before birth, sometimes with growth or developmental differences. It is caused by changes in one copy of the NR2F2 gene. - [Noonan Syndrome](https://dantelabs.com/conditions/noonan-syndrome.md): Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects. - [PLD1-Related Congenital Heart Disease](https://dantelabs.com/conditions/pld1-related-congenital-heart-disease.md): A rare inherited form of congenital heart disease that mainly affects the right side of the heart, including the tricuspid and pulmonary valves. It is caused by changes in both copies of the PLD1 gene. - [Primary Lymphoedema & Lymphatic Malformations](https://dantelabs.com/conditions/primary-lymphoedema-lymphatic-malformations.md): Inherited conditions in which the lymphatic system does not develop or work normally, causing long-term swelling, usually of the legs. Some forms also affect the eyes, hair, heart or other organs. - [Progressive Cardiac Conduction Disease & Sick Sinus Syndrome](https://dantelabs.com/conditions/cardiac-conduction-disease-sick-sinus-syndrome.md): Inherited conditions that affect the heart's electrical wiring, slowing the heartbeat or blocking signals between the upper and lower chambers. They often progress with age and may need a pacemaker. - [Restrictive Cardiomyopathy](https://dantelabs.com/conditions/restrictive-cardiomyopathy.md): Inherited conditions in which the heart muscle becomes stiff, so the ventricles cannot fill properly even though their size and pumping strength may look normal. Restrictive cardiomyopathy caused by storage diseases is covered in the lysosomal storage reports. - [Short Qt Syndrome](https://dantelabs.com/conditions/short-qt-syndrome.md): A rare inherited heart disorder characterized by an abnormally short QT interval on an electrocardiogram, which increases the risk of life-threatening arrhythmias and sudden cardiac death. - [Syndromic and Metabolic Cardiomyopathies](https://dantelabs.com/conditions/syndromic-and-metabolic-cardiomyopathies.md): Inherited cardiomyopathies that are part of a wider syndrome, a storage or mitochondrial disorder, or a gene-specific heart and muscle condition, and that are not covered by the dedicated reports for hypertrophic, dilated, arrhythmogenic and restrictive cardiomyopathy and left ventricular noncompaction. - [Tetralogy of Fallot](https://dantelabs.com/conditions/tetralogy-of-fallot.md): Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. - [Thrombophilia](https://dantelabs.com/conditions/thrombophilia.md): Hereditary thrombophilia is an inherited genetic condition that increases your body's tendency to form abnormal blood clots in blood vessels - [Cutis Laxa](https://dantelabs.com/conditions/cutis-laxa.md): A rare group of connective tissue disorders characterized by loose, inelastic, and wrinkled skin that often hangs in folds due to a defect in elastic fibers. - [Darier and Hailey-Hailey Disease](https://dantelabs.com/conditions/darier-and-hailey-hailey-disease.md): Inherited skin conditions in which skin cells do not stick together properly, causing crusted papules or painful, blistering patches, often in skin folds. Flares are often triggered by heat, sweat, friction or sunlight. - [Dyschromatosis Symmetrica Hereditaria](https://dantelabs.com/conditions/dyschromatosis-symmetrica-hereditaria.md): An inherited pigment disorder caused by ADAR variants that produces a mix of darker and lighter freckle-like spots on the backs of the hands and feet. - [Dyskeratosis Congenita](https://dantelabs.com/conditions/dyskeratosis-congenita.md): A rare genetic disorder characterized by abnormal skin pigmentation, nail dystrophy, and oral leukoplakia; it is often associated with bone marrow failure and an increased risk of cancer. - [Ectodermal Dysplasias](https://dantelabs.com/conditions/ectodermal-dysplasias.md): A group of genetic disorders characterized by the abnormal development of two or more ectodermal structures, including the skin, hair, nails, teeth, and sweat glands. - [Ellis-van Creveld Syndrome and Cranioectodermal Dysplasia](https://dantelabs.com/conditions/ellis-van-creveld-and-cranioectodermal-dysplasia.md): Rare inherited ciliopathies that affect bone growth together with the hair, teeth and nails. They can also involve the heart or kidneys. - [Epidermolysis Bullosa](https://dantelabs.com/conditions/epidermolysis-bullosa.md): A group of rare genetic disorders characterized by extremely fragile skin and mucous membranes that blister and tear with minimal friction or trauma, due to defects in proteins essential for skin adhesion. - [Familial Hidradenitis Suppurativa](https://dantelabs.com/conditions/familial-hidradenitis-suppurativa.md): Rare inherited forms of hidradenitis suppurativa, a condition causing painful lumps and abscesses in the armpits, groin and other skin folds. Most hidradenitis suppurativa is not caused by a single gene; this report covers the familial forms linked to the gamma-secretase genes. - [Ferguson-Smith Disease (Multiple Self-Healing Squamous Epithelioma)](https://dantelabs.com/conditions/ferguson-smith-disease-msse.md): An inherited skin condition in which multiple skin tumours appear, most often on sun-exposed skin, then regress on their own after several months, leaving disfiguring scars. It is caused by a loss-of-function change in one copy of the TGFBR1 gene, together with a variant at a second locus on chromosome 9. - [Fibrodysplasia Ossificans Progressiva](https://dantelabs.com/conditions/fibrodysplasia-ossificans-progressiva.md): Rare inherited conditions in which bone forms in soft tissues such as muscles, tendons or skin. It covers fibrodysplasia ossificans progressiva (FOP) and progressive osseous heteroplasia (POH). - [Focal Dermal Hypoplasia (Goltz Syndrome)](https://dantelabs.com/conditions/focal-dermal-hypoplasia-porcn.md): A rare X-linked condition affecting the skin, limbs, eyes and teeth, with streaks of thin skin present from birth. It mostly affects females and is caused by changes in the PORCN gene, usually arising for the first time in the affected person. - [GAPO Syndrome](https://dantelabs.com/conditions/gapo-syndrome.md): A rare inherited condition named for its main features: growth restriction, alopecia (hair loss), pseudoanodontia (teeth that do not erupt) and optic atrophy. It is caused by changes in both copies of the ANTXR1 gene. - [Griscelli Syndrome](https://dantelabs.com/conditions/griscelli-syndrome.md): A rare inherited condition causing silvery-grey hair and light skin. One type also affects the immune system and another affects the nervous system. - [H Syndrome](https://dantelabs.com/conditions/h-syndrome-slc29a3.md): A rare inherited condition named for its many 'H' features, including darkened and hairy skin patches, hearing loss, heart problems, short height and high blood sugar. It is caused by changes in both copies of the SLC29A3 gene. - [Hereditary Hypotrichosis, Woolly Hair and Monilethrix](https://dantelabs.com/conditions/hereditary-hypotrichosis-and-hair-shaft-disorders.md): Inherited conditions that affect hair growth or hair structure, causing sparse, fragile, tightly curled or unmanageable hair. - [Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita](https://dantelabs.com/conditions/hereditary-palmoplantar-keratodermas.md): A group of inherited conditions that cause thickened skin on the palms of the hands and soles of the feet, sometimes with nail, hair, tooth, gum or hearing problems. It includes pachyonychia congenita and Papillon-Lefèvre and Haim-Munk syndromes. - [IFAP Syndrome (MBTPS2)](https://dantelabs.com/conditions/ifap-syndrome-mbtps2.md): A rare X-linked condition affecting the skin, hair and eyes, causing rough follicular scaling, absent hair and light sensitivity. Some boys also have the wider BRESHECK features. It is caused by changes in the MBTPS2 gene. - [Ichthyosis Vulgaris](https://dantelabs.com/conditions/ichthyosis-vulgaris.md): The most common inherited form of dry, scaly skin, caused by reduced filaggrin, a protein that helps form the skin barrier. Filaggrin variants are also linked to a higher chance of eczema. - [Inherited Ichthyoses](https://dantelabs.com/conditions/inherited-ichthyoses.md): A group of inherited skin conditions in which the outer skin layer does not form or shed normally, causing persistent scaling, thickening or peeling. They include autosomal recessive congenital ichthyosis (including harlequin ichthyosis), X-linked ichthyosis, keratinopathic ichthyoses and peeling skin syndromes. - [Lipoid Proteinosis](https://dantelabs.com/conditions/lipoid-proteinosis.md): A rare inherited condition in which material builds up in the skin, throat and other tissues, causing a hoarse voice from infancy and thickened skin. - [PLEC-Related Epidermolysis Bullosa and Muscular Dystrophy](https://dantelabs.com/conditions/plec-related-epidermolysis-bullosa-muscular-dystrophy.md): A group of inherited conditions in which the skin blisters easily from birth and the muscles may weaken over time. They are mostly caused by changes in both copies of PLEC, which makes plectin, a protein that anchors cell structures in skin and muscle. - [Porokeratosis](https://dantelabs.com/conditions/porokeratosis.md): An inherited tendency to develop ring-shaped, scaly skin patches, most often on sun-exposed skin in adulthood. It is linked to genes in the mevalonate pathway. - [Prolidase Deficiency](https://dantelabs.com/conditions/prolidase-deficiency.md): A rare inherited metabolic disorder that affects the recycling of collagen, causing long-lasting skin ulcers, frequent infections and sometimes learning difficulties. It is caused by changes in both copies of the PEPD gene. - [Pseudoxanthoma Elasticum](https://dantelabs.com/conditions/pseudoxanthoma-elasticum.md): An inherited condition in which elastic fibres in the skin, eyes and blood vessels gradually become calcified. It causes yellowish skin papules, can affect central vision, and can narrow arteries. - [Restrictive Dermopathy (ZMPSTE24)](https://dantelabs.com/conditions/restrictive-dermopathy-zmpste24.md): A rare, lethal condition before or soon after birth in which the skin is tight and rigid, restricting movement and breathing. It is caused by changes in both copies of the ZMPSTE24 gene. - [Scalp-Ear-Nipple Syndrome](https://dantelabs.com/conditions/scalp-ear-nipple-syndrome.md): An inherited condition, also called Finlay-Marks syndrome, causing a patch of missing skin on the scalp, differently shaped ears and absent or underdeveloped nipples and breasts. It is caused by changes in the KCTD1 gene. - [Tylosis with Oesophageal Cancer](https://dantelabs.com/conditions/tylosis-with-oesophageal-cancer.md): A rare inherited condition causing thickened skin on the palms and soles, together with a high lifetime risk of squamous cell cancer of the oesophagus. - [Autoimmune Polyendocrine Syndrome Type 1 (APECED)](https://dantelabs.com/conditions/autoimmune-polyendocrine-syndrome-type-1.md): A rare inherited immune disorder caused by variants in the AIRE gene, in which the immune system attacks several hormone-producing glands. It typically starts in childhood with chronic candida infections, low parathyroid function and adrenal insufficiency. - [Carney Complex & Hereditary Adrenal Cushing Syndrome](https://dantelabs.com/conditions/carney-complex-hereditary-adrenal-cushing-syndrome.md): Inherited conditions, mainly caused by variants in PRKAR1A, PDE11A, PDE8B and ARMC5, in which benign tumours of the adrenal glands and other organs can cause Cushing syndrome. Carney complex also raises the risk of heart myxomas and other endocrine tumours. - [Congenital Adrenal Hyperplasia](https://dantelabs.com/conditions/congenital-adrenal-hyperplasia.md): Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease. - [Congenital Hypothyroidism](https://dantelabs.com/conditions/congenital-hypothyroidism.md): A thyroid hormone deficiency present from birth. - [Familial Glucocorticoid Deficiency](https://dantelabs.com/conditions/familial-glucocorticoid-deficiency.md): Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. - [Familial Isolated Pituitary Adenoma (FIPA / X-LAG)](https://dantelabs.com/conditions/familial-isolated-pituitary-adenoma.md): Inherited predisposition to pituitary tumours, mainly caused by variants in AIP or duplications including GPR101. Tumours often secrete growth hormone and can start early, causing gigantism or acromegaly. - [Graves Disease](https://dantelabs.com/conditions/graves-disease.md): An autoimmune disorder causing hyperthyroidism due to an overactive thyroid gland, often characterized by goiter and ophthalmopathy. - [Growth Hormone Insensitivity & IGF-1 Axis Disorders](https://dantelabs.com/conditions/growth-hormone-insensitivity-igf1-axis-disorders.md): Inherited conditions in which the body cannot respond normally to growth hormone or IGF-1, caused by variants in genes such as GHR, IGF1, IGFALS, IGF1R, STAT5B and GHSR. They mainly cause short stature. - [Hyperinsulinism](https://dantelabs.com/conditions/hyperinsulinism.md): Abnormally high levels of insulin in the blood. - [Hyperthyroidism](https://dantelabs.com/conditions/hyperthyroidism.md): A condition characterized by the overproduction of thyroid hormones, resulting in a hypermetabolic state. - [Hypogonadotropic Hypogonadism](https://dantelabs.com/conditions/hypogonadotropic-hypogonadism.md): Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis. - [Inherited Parathyroid & Calcium-Sensing Disorders](https://dantelabs.com/conditions/inherited-parathyroid-calcium-sensing-disorders.md): Inherited conditions that disturb parathyroid hormone and blood calcium control, caused by variants in genes such as CASR, GNA11, AP2S1, GCM2, CDC73 and GATA3. They can cause blood calcium to run too high or too low. - [Maturity-Onset Diabetes Of The Young](https://dantelabs.com/conditions/maturity-onset-diabetes-of-the-young.md): A monogenic form of diabetes, usually diagnosed in adolescence or early adulthood, characterized by impaired insulin secretion. - [Monogenic Obesity (Leptin-Melanocortin Pathway)](https://dantelabs.com/conditions/monogenic-obesity-leptin-melanocortin-pathway.md): Inherited forms of severe obesity caused by variants in genes of the leptin-melanocortin appetite pathway, such as MC4R, LEP, LEPR, POMC and PCSK1. They typically cause intense hunger and rapid weight gain from early childhood. - [Monogenic Precocious Puberty](https://dantelabs.com/conditions/monogenic-precocious-puberty.md): Inherited forms of early puberty caused by variants in genes such as MKRN3, DLK1, KISS1R, KISS1 and LHCGR. Puberty starts before age 8 in girls or 9 in boys. - [Neonatal Diabetes Mellitus](https://dantelabs.com/conditions/neonatal-diabetes-mellitus.md): Inherited forms of diabetes that begin in the first six months of life, caused by variants in genes such as KCNJ11, ABCC8 and INS. They can be permanent or transient. - [Non-Acquired Combined Pituitary Hormone Deficiency](https://dantelabs.com/conditions/non-acquired-combined-pituitary-hormone-deficiency.md): Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. - [PDX1-Related Pancreatic Agenesis](https://dantelabs.com/conditions/pancreatic-agenesis-pdx1.md): A rare inherited condition in which the pancreas does not form or is underdeveloped, causing diabetes from the newborn period and poor digestion of food because digestive enzymes are missing. It is caused by changes in both copies of the PDX1 gene. - [Pendred Syndrome](https://dantelabs.com/conditions/pendred-syndrome.md): Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter. - [Polycystic Ovary Syndrome](https://dantelabs.com/conditions/polycystic-ovary-syndrome.md): A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity. - [Pseudohypoparathyroidism & GNAS-Inactivation Disorders](https://dantelabs.com/conditions/pseudohypoparathyroidism-gnas-inactivation-disorders.md): Inherited conditions in which the body does not respond properly to parathyroid hormone and some other hormones, mostly caused by changes in the GNAS gene, and in acrodysostosis by PRKAR1A or PDE4D. Features can include low calcium, short stature and short hand bones. - [Severe Inherited Insulin Resistance](https://dantelabs.com/conditions/severe-inherited-insulin-resistance.md): Rare inherited conditions caused by variants in the insulin receptor gene (INSR) or AKT2 that disturb insulin signalling, ranging from severe infant-onset disease to adolescent-onset insulin resistance with high androgens. - [Thyroid Hormone Resistance, Transport & Metabolism Defects](https://dantelabs.com/conditions/thyroid-hormone-resistance-transport-metabolism-defects.md): Inherited conditions in which thyroid hormone cannot act, enter cells or be processed normally, caused by variants in THRB, THRA, SLC16A2 (MCT8) or SECISBP2. Blood thyroid tests can look abnormal in unusual ways. - [Wolfram Syndrome & WFS1 Spectrum](https://dantelabs.com/conditions/wolfram-syndrome.md): Inherited conditions caused by variants in WFS1 or CISD2 that combine childhood-onset diabetes with loss of vision from optic atrophy and, often, hearing loss and diabetes insipidus. - [ACOX2 Deficiency (Bile Acid Synthesis Defect 6)](https://dantelabs.com/conditions/acox2-deficiency-bile-acid-synthesis-defect-6.md): A rare inherited condition in which the liver cannot complete the production of normal bile acids, so unusual bile acid intermediates build up. It is caused by changes in both copies of the ACOX2 gene. - [ARC Syndrome 1 (VPS33B)](https://dantelabs.com/conditions/arc-syndrome-vps33b.md): A rare, serious condition of infancy combining joint contractures (arthrogryposis), kidney tubule dysfunction and liver bile flow problems (cholestasis). It is caused by changes in both copies of the VPS33B gene. - [ARC Syndrome 2 (VIPAS39)](https://dantelabs.com/conditions/arc-syndrome-2-vipas39.md): A rare, severe inherited condition of infancy affecting the joints (arthrogryposis), kidney tubules and liver (cholestasis), with poor growth and a bleeding tendency. This form is caused by changes in both copies of the VIPAS39 gene. - [Alagille Syndrome](https://dantelabs.com/conditions/alagille-syndrome.md): A rare genetic disorder characterized by defects in multiple organ systems, including the liver (often due to bile duct paucity), heart, eyes, and skeleton. - [CHAPLE Disease (CD55 Deficiency)](https://dantelabs.com/conditions/chaple-disease.md): A rare inherited immune disorder in which loss of the CD55 protein leaves cells unprotected from the complement system, causing protein loss from the gut, swelling, poor growth and a risk of blood clots. Targeted treatment is now available. - [Congenital Bile Acid Synthesis Defect 1 (HSD3B7)](https://dantelabs.com/conditions/bile-acid-synthesis-defect-1-hsd3b7.md): An inherited liver condition in which the body cannot make normal bile acids, causing jaundice and poor absorption of fats and vitamins, usually from infancy. It is caused by changes in both copies of HSD3B7 and is treatable with oral bile acid therapy. - [Congenital Bile Acid Synthesis Defect 2](https://dantelabs.com/conditions/congenital-bile-acid-synthesis-defect-2-akr1d1.md): A rare inherited liver condition in which the body cannot make normal bile acids, causing jaundice and poor absorption of fats and vitamins in early infancy. It is caused by changes in both copies of the AKR1D1 gene and is treatable. - [Congenital Diarrhoeas & Enteropathies](https://dantelabs.com/conditions/congenital-diarrhoeas-and-enteropathies.md): A group of rare inherited disorders of the intestinal lining that cause severe, persistent diarrhoea or poor nutrient absorption, usually starting in the first weeks of life. Identifying the specific cause guides treatment and family counselling. - [Congenital Disaccharidase Deficiencies](https://dantelabs.com/conditions/congenital-disaccharidase-deficiencies.md): Inherited deficiencies of the gut enzymes that digest dietary sugars, causing diarrhoea, bloating and abdominal pain after eating sucrose, starch or lactose. Both are managed mainly through diet. - [Congenital Intestinal Atresia & Short Bowel](https://dantelabs.com/conditions/congenital-intestinal-atresia-and-short-bowel.md): Very rare inherited conditions in which parts of the intestine are blocked or the bowel is abnormally short at birth. The TTC7A form also affects the immune system. - [Crohn's Disease](https://dantelabs.com/conditions/crohn-disease.md): A chronic inflammatory bowel disease that can affect any part of the digestive tract, causing symptoms like abdominal pain, severe diarrhea, fatigue, and weight loss. - [Familial Intrahepatic Cholestasis](https://dantelabs.com/conditions/familial-intrahepatic-cholestasis.md): An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome. - [Hereditary Visceral Myopathy, CIPO & MMIHS](https://dantelabs.com/conditions/hereditary-visceral-myopathy-and-intestinal-pseudo-obstruction.md): Inherited disorders of the muscles or nerves that move food through the gut and empty the bladder, causing symptoms of bowel obstruction without a physical blockage. Severity ranges from life-threatening newborn disease to milder dysmotility in adults. - [Hirschsprung Disease & Related Enteric Neurocristopathies](https://dantelabs.com/conditions/hirschsprung-disease.md): Conditions in which the nerve cells that control bowel movement fail to develop along part of the intestine, causing constipation or bowel obstruction, usually from birth. Several genes are involved, most often RET, and many carriers of a variant never develop the condition. - [Inflammatory Bowel Diseases (IBD)](https://dantelabs.com/conditions/inflammatory-bowel-diseases-ibd-74.md): Chronic inflammatory conditions of the gastrointestinal tract, primarily comprising Crohn's disease and ulcerative colitis, characterized by abdominal pain, diarrhea, fatigue, and weight loss. - [Low phospholipid-associated cholelithiasis](https://dantelabs.com/conditions/low-phospholipid-associated-cholelithiasis.md): The formation of gallstones, particularly cholesterol stones, that is associated with or caused by reduced levels of phospholipids in the bile. - [Pancreatitis](https://dantelabs.com/conditions/pancreatitis.md): An inflammation of the pancreas, an organ producing digestive enzymes and hormones, characterized by severe abdominal pain, nausea, and vomiting. - [Polycystic Liver Disease (1 and 2)](https://dantelabs.com/conditions/polycystic-liver-disease-1-and-2.md): A genetic disorder characterized by the development of multiple fluid-filled cysts in the liver, often leading to liver enlargement and abdominal symptoms, and frequently co-occurring with polycystic kidney disease. - [Townes-Brocks Syndrome](https://dantelabs.com/conditions/townes-brocks-syndrome-1-sall1.md): A rare developmental condition that typically affects the anus, the thumbs and the ears, often with hearing loss and sometimes kidney or heart differences. It is caused by changes in one copy of the SALL1 gene. - [Ulcer Disease](https://dantelabs.com/conditions/ulcer-disease.md): A condition characterized by open sores or lesions that form on the lining of the digestive tract, most commonly in the stomach or the first part of the small intestine (duodenum), often causing pain and other gastrointestinal symptoms. - [Ulcerative Colitis](https://dantelabs.com/conditions/ulcerative-colitis.md): An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage. - [Congenital Afibrinogenemia](https://dantelabs.com/conditions/congenital-afibrinogenemia.md): Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen. - [Congenital Dyserythropoietic Anaemias](https://dantelabs.com/conditions/congenital-dyserythropoietic-anaemias.md): Rare inherited conditions in which the bone marrow makes red blood cells that develop abnormally, leading to anaemia, jaundice and iron overload. They are often mistaken for thalassaemia or hereditary spherocytosis. - [Congenital Factor XII Deficiency](https://dantelabs.com/conditions/congenital-factor-xii-deficiency.md): An inherited lack of clotting factor XII that makes a common blood clotting test (aPTT) look prolonged but does not usually cause bleeding. It is caused by changes in the F12 gene, usually in both copies. - [Congenital Thrombotic Thrombocytopenic Purpura](https://dantelabs.com/conditions/congenital-thrombotic-thrombocytopenic-purpura.md): A rare recessive condition in which the enzyme ADAMTS13 is missing, allowing tiny clots to form in small blood vessels. This uses up platelets, breaks down red cells and can damage organs such as the brain and kidneys. - [Diamond-Blackfan Anemia](https://dantelabs.com/conditions/diamond-blackfan-anemia.md): A congenital aregenerative and often macrocytic anemia with erythroblastopenia. - [Fanconi Anemia](https://dantelabs.com/conditions/fanconi-anemia.md): A rare, inherited genetic disorder characterized by a defect in DNA repair, leading to progressive bone marrow failure, an increased risk of cancer, and various congenital physical abnormalities. - [G6PD Deficiency](https://dantelabs.com/conditions/g6pd-deficiency.md): An inherited enzyme deficiency caused by variants in the G6PD gene. Red blood cells can break down (haemolysis) after certain medicines, infections or eating fava beans. It is one of the most common enzyme deficiencies worldwide, and mainly affects males. - [Haemophilia](https://dantelabs.com/conditions/haemophilia.md): Inherited bleeding disorders in which blood does not clot properly because a clotting factor is missing or reduced: factor VIII in haemophilia A, factor IX in haemophilia B. It mainly affects males, and female carriers can have milder bleeding symptoms. - [Hereditary Methaemoglobinaemia and Unstable Haemoglobins](https://dantelabs.com/conditions/hereditary-methaemoglobinaemia-and-unstable-haemoglobins.md): Inherited conditions in which haemoglobin, the oxygen-carrying protein in red cells, either turns too readily into a form that cannot carry oxygen (methaemoglobin) or is unstable and breaks down. They can cause a bluish skin colour, low oxygen readings or haemolytic anaemia. - [Hereditary Sideroblastic Anaemias](https://dantelabs.com/conditions/hereditary-sideroblastic-anaemias.md): Inherited conditions in which developing red blood cells cannot make haem properly, so iron collects in rings around their nucleus (ring sideroblasts). They cause anaemia and, over time, iron overload. - [Hereditary Spherocytosis](https://dantelabs.com/conditions/hereditary-spherocytosis.md): A genetic disorder characterized by sphere-shaped red blood cells that are fragile and prematurely destroyed, leading to hemolytic anemia. - [Hereditary Thrombocythaemia (JAK2)](https://dantelabs.com/conditions/hereditary-thrombocythaemia-jak2.md): A rare inherited condition in which the body makes too many platelets, caused by a change in the JAK2 gene that is passed down in families. It is different from the much more common JAK2 changes that are acquired in blood cells later in life. - [Hereditary Thrombocythaemia (THPO)](https://dantelabs.com/conditions/hereditary-thrombocythaemia-thpo.md): An inherited condition in which the body makes too many platelets, which can increase the risk of blood clots. It is caused by changes in the THPO gene that increase production of thrombopoietin, the hormone that drives platelet production. - [Hereditary Von Willebrand Disease](https://dantelabs.com/conditions/hereditary-von-willebrand-disease.md): An inherited bleeding disorder caused by a deficiency or dysfunction of von Willebrand factor, a protein essential for blood clotting. - [High-Molecular-Weight Kininogen Deficiency](https://dantelabs.com/conditions/high-molecular-weight-kininogen-deficiency.md): A rare inherited blood clotting test abnormality, in which a clotting test (aPTT) is prolonged. It is caused by changes in both copies of the KNG1 gene and does not appear to increase bleeding. - [ITGA2B/ITGB3-Related Macrothrombocytopenia](https://dantelabs.com/conditions/itga2b-itgb3-macrothrombocytopenia.md): An inherited bleeding condition with a mildly low number of unusually large platelets, and bleeding that may be mild. It is caused by specific changes in one copy of ITGA2B or ITGB3, the genes for the platelet fibrinogen receptor. - [ITGB3-Related Macrothrombocytopenia](https://dantelabs.com/conditions/itgb3-related-macrothrombocytopenia.md): An inherited platelet disorder in which people have fewer, larger platelets than usual. It is caused by a change in one copy of ITGB3, a gene that makes part of the main platelet receptor for clotting. - [Inherited Fibrinolytic Disorders](https://dantelabs.com/conditions/inherited-fibrinolytic-disorders.md): Rare inherited conditions affecting the system that breaks down blood clots. Most cause bleeding because clots dissolve too quickly, often with normal routine clotting tests; plasminogen deficiency instead causes thick deposits on the lining of the eyes, mouth and airways. - [Inherited Iron Metabolism Disorders](https://dantelabs.com/conditions/inherited-iron-metabolism-disorders.md): Rare recessive conditions that disturb how the body absorbs, carries or uses iron, causing iron-deficiency anaemia that does not respond to iron tablets, iron build-up in organs, or both. HFE haemochromatosis has its own report. - [Inherited Platelet Function Disorders](https://dantelabs.com/conditions/inherited-platelet-function-disorders.md): Inherited conditions in which platelets, the blood cells that help form clots, do not work properly, causing easy bruising, nosebleeds and heavy or prolonged bleeding. Platelet counts are often normal or only mildly reduced. - [Inherited Thrombocytopenias](https://dantelabs.com/conditions/inherited-thrombocytopenias.md): Inherited conditions that cause a low platelet count from birth or childhood, sometimes with abnormally sized or poorly working platelets. Some forms also affect the kidneys, hearing or arms, or raise the risk of blood cancers. - [MPL-Related Hereditary Thrombocythaemia](https://dantelabs.com/conditions/hereditary-thrombocythaemia-mpl.md): An inherited condition in which the body makes too many platelets, which can raise the risk of blood clots or, less often, bleeding. It is caused by a change in one copy of the MPL gene, the receptor for the platelet-making hormone thrombopoietin. - [Polycythemia](https://dantelabs.com/conditions/polycythemia.md): A condition characterized by an abnormally high concentration of red blood cells in the blood, leading to increased blood viscosity and potentially various health complications. - [Prekallikrein Deficiency](https://dantelabs.com/conditions/prekallikrein-deficiency.md): An inherited blood-clotting laboratory difference in which the protein prekallikrein (Fletcher factor) is low, making a routine clotting test look abnormal without usually causing bleeding. It is caused by changes in both copies of the KLKB1 gene. - [Pyruvate Kinase Deficiency and Other Red Cell Enzyme Disorders](https://dantelabs.com/conditions/pyruvate-kinase-deficiency-and-red-cell-enzyme-disorders.md): Inherited shortages of enzymes that red blood cells need for energy or protection, which make red cells break down early (haemolytic anaemia). Pyruvate kinase deficiency is the most common; G6PD deficiency has its own report. - [Rare Inherited Bone Marrow Failure Syndromes](https://dantelabs.com/conditions/rare-inherited-bone-marrow-failure-syndromes.md): Rare inherited conditions in which the bone marrow does not make enough blood cells, other than better-known forms such as Fanconi anaemia, Diamond-Blackfan anaemia and Shwachman-Diamond syndrome, which have their own reports. Several carry an increased risk of myelodysplastic syndrome or leukaemia. - [Rare Inherited Coagulation Factor Deficiencies](https://dantelabs.com/conditions/rare-inherited-coagulation-factor-deficiencies.md): Rare inherited bleeding disorders caused by a missing or reduced clotting factor other than factors VIII and IX, including deficiencies of factors II, V, VII, X and XIII. Most are recessive, so both copies of a gene must be affected, although carriers can have mild bleeding. - [Rare Inherited Megaloblastic Anaemias](https://dantelabs.com/conditions/rare-inherited-megaloblastic-anaemias.md): Rare recessive conditions in which red blood cells are large and immature because the body cannot make the building blocks of DNA properly, despite normal vitamin B12 and folate intake. Inherited cobalamin (B12) disorders and thiamine-responsive anaemia are covered in other reports. - [Red Blood Cell Membrane Disorders](https://dantelabs.com/conditions/red-blood-cell-membrane-disorders.md): Conditions affecting the structural integrity or function of the red blood cell membrane, leading to abnormal cell shape, increased fragility, or hemolytic anemia. - [Severe Congenital Neutropenia](https://dantelabs.com/conditions/severe-congenital-neutropenia.md): A rare, inherited disorder characterized by a very low number of neutrophils in the blood, present from birth, leading to a high susceptibility to severe and recurrent bacterial infections. - [Shwachman-Diamond Syndrome](https://dantelabs.com/conditions/shwachman-diamond-syndrome.md): Shwachman-Diamond syndrome is a rare inherited condition that affects the bone marrow, the pancreas and the skeleton. It typically causes low white blood cell counts, poor digestion of fat and slow growth in childhood. - [Sickle Cell Disease](https://dantelabs.com/conditions/sickle-cell-disease.md): An inherited red blood cell disorder caused by variants in the HBB gene. Red cells take a rigid sickle shape, which causes anaemia, painful crises, infections and organ damage. Carriers (sickle cell trait) usually have no symptoms. - [Thalassaemia](https://dantelabs.com/conditions/thalassaemia.md): Inherited blood disorders in which the body makes too little haemoglobin, due to variants in the alpha-globin (HBA1, HBA2) or beta-globin (HBB) genes. Severity ranges from carriers with no symptoms to severe anaemia needing regular transfusions. - [Activated PI3K-Delta Syndrome (APDS)](https://dantelabs.com/conditions/activated-pi3k-delta-syndrome.md): APDS is caused by overactivity of the PI3K-delta signalling enzyme in immune cells, due to changes in PIK3CD (APDS1) or PIK3R1 (APDS2). It causes recurrent chest and sinus infections, persistent viral infections, enlarged lymph nodes and spleen, and a raised lymphoma risk. - [Agammaglobulinaemia (XLA and Autosomal Forms)](https://dantelabs.com/conditions/agammaglobulinemia.md): Inherited conditions in which B cells fail to develop, so the body makes almost no antibodies and is prone to serious bacterial infections from infancy. The most common form is X-linked agammaglobulinaemia (BTK); rarer autosomal forms involve genes such as IGHM, CD79A, CD79B, BLNK and TCF3. - [Ataxia-Telangiectasia](https://dantelabs.com/conditions/ataxia-telangiectasia.md): Ataxia-telangiectasia is caused by changes in both copies of ATM. It causes progressive loss of coordination from early childhood, small dilated blood vessels in the eyes and skin, immunodeficiency with recurrent chest infections, sensitivity to radiation and a high risk of blood cancers. Carrying a single ATM change is a separate, moderate breast cancer risk and is not covered by this report. - [Autoimmune Disease](https://dantelabs.com/conditions/autoimmune-disease.md): A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). - [Autoimmune Lymphoproliferative Syndrome (ALPS)](https://dantelabs.com/conditions/autoimmune-lymphoproliferative-syndrome.md): A condition in which lymphocytes fail to die off normally, causing long-lasting enlargement of lymph nodes and spleen, autoimmune blood cytopenias and a raised lymphoma risk. Most cases involve FAS; others involve FASLG, CASP10, CASP8 or related genes. - [Chediak-Higashi syndrome](https://dantelabs.com/conditions/chediak-higashi-syndrome.md): An autosomal recessive immune disorder characterized by immunodeficiency, partial oculocutaneous albinism, neurological abnormalities, and bleeding problems. - [Chronic Granulomatous Disease](https://dantelabs.com/conditions/chronic-granulomatous-disease.md): Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas. - [Chronic Mucocutaneous Candidiasis](https://dantelabs.com/conditions/chronic-mucocutaneous-candidiasis.md): Inherited immune conditions that make people prone to persistent or recurring Candida (yeast) infections of the skin, nails and mouth, and in some forms to more serious fungal infections. They are caused by changes in genes of the IL-17 immune pathway and related genes. - [Common Variable Immunodeficiency (Monogenic CVID)](https://dantelabs.com/conditions/common-variable-immunodeficiency.md): Common variable immunodeficiency (CVID) causes low antibody levels, recurrent chest and sinus infections and often autoimmunity or gut inflammation. A minority of cases have a single-gene cause, such as NFKB1, NFKB2, ICOS, CD19, IKZF1 or LRBA; changes in TNFRSF13B (TACI) are a risk factor rather than a cause on their own. - [Deficiency of Adenosine Deaminase 2 (DADA2)](https://dantelabs.com/conditions/deficiency-of-adenosine-deaminase-2.md): An inherited condition caused by changes in the ADA2 gene that leads to inflammation of blood vessels, early strokes, low blood counts and reduced antibody levels. Symptoms usually begin in childhood but can first appear in adults. - [EBV-Driven Lymphoproliferation and CARD11 Immune Dysregulation](https://dantelabs.com/conditions/ebv-lymphoproliferation-and-card11-immune-dysregulation.md): Rare inherited immune conditions in which the immune system cannot properly control Epstein-Barr virus (EBV) infection or regulate the growth of immune cells. This can lead to enlarged lymph nodes and spleen, and an increased risk of severe EBV disease and lymphoma. - [Familial Hemophagocytic Lymphohistiocytosis](https://dantelabs.com/conditions/familial-hemophagocytic-lymphohistiocytosis.md): Inherited disorders in which immune cells cannot switch off properly after an infection, leading to a dangerous build-up of activated immune cells and inflammation. Most cases begin in infancy, but milder gene changes can cause first symptoms in adolescence or adulthood. - [Familial Isolated Congenital Asplenia](https://dantelabs.com/conditions/familial-isolated-congenital-asplenia.md): An inherited condition, usually caused by changes in the RPSA gene, in which a person is born without a spleen but has no other birth defects. Without a spleen, people are at much higher risk of severe bacterial infections. - [Familial Mediterranean Fever](https://dantelabs.com/conditions/familial-mediterranean-fever.md): An inherited autoinflammatory disease, mostly caused by variants in the MEFV gene. It causes recurrent episodes of fever with painful inflammation of the abdomen, chest or joints, and can lead to amyloidosis if untreated. - [Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI)](https://dantelabs.com/conditions/hepatic-veno-occlusive-disease-with-immunodeficiency.md): A rare inherited condition caused by changes in the SP110 gene that combines a severe immune deficiency with blockage of small veins in the liver. It usually begins in infancy. - [Hereditary Angioedema](https://dantelabs.com/conditions/hereditary-angioedema.md): A rare genetic disorder characterized by recurrent, unpredictable episodes of severe swelling that can affect the skin, upper respiratory tract, and gastrointestinal tract, resulting from a deficiency or dysfunction of C1 esterase inhibitor protein. - [Hereditary Periodic Fever Syndromes](https://dantelabs.com/conditions/hereditary-periodic-fever-syndromes.md): A group of inherited autoinflammatory conditions that cause repeated episodes of fever, rash, joint pain and inflammation without infection. Effective treatments that block the inflammatory signal interleukin-1 are available for these conditions. - [Hyper-IgE Syndrome](https://dantelabs.com/conditions/hyper-ige-syndrome.md): A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections. - [Hyper-IgM Syndromes](https://dantelabs.com/conditions/hyper-igm-syndromes.md): Inherited conditions in which the immune system cannot switch from making IgM antibodies to IgG, IgA and IgE, so IgM is normal or high while other antibodies are low. The X-linked form (CD40LG) also weakens T-cell help and raises the risk of opportunistic infections and liver disease; other forms involve CD40, AICDA and UNG. - [IPEX Syndrome and Other Tregopathies](https://dantelabs.com/conditions/ipex-and-tregopathies.md): Inherited conditions in which regulatory T cells, the immune cells that keep the immune system from attacking the body, are missing or do not work. They cause early, severe autoimmunity such as enteropathy, type 1 diabetes, thyroid disease and cytopenias, often with infections. Genes include FOXP3 (IPEX), IL2RA, CTLA4, LRBA, BACH2, IL2RB and DEF6. - [ITCH Deficiency](https://dantelabs.com/conditions/itch-deficiency-autoimmune-disease.md): A rare inherited condition in which the immune system attacks several organs, including the lungs, liver and gut, alongside growth and developmental differences. It is caused by changes in both copies of the ITCH gene, which helps keep immune responses in check. - [Immuno-Osseous Dysplasias](https://dantelabs.com/conditions/immuno-osseous-dysplasias.md): Inherited conditions that combine short stature from abnormal bone growth with a weakened immune system. They include cartilage-hair hypoplasia, Schimke immuno-osseous dysplasia and Roifman syndrome. - [Inherited Complement and Properdin Deficiencies](https://dantelabs.com/conditions/complement-and-properdin-deficiencies.md): Inherited deficiencies of the complement system, a group of blood proteins that help the immune system clear bacteria and immune complexes. Depending on the component affected, they raise the risk of recurrent infections, particularly meningococcal disease, or of lupus-like autoimmune disease. - [JAK1-Related Autoinflammation, Immune Dysregulation and Eosinophilia](https://dantelabs.com/conditions/jak1-autoinflammation-immune-dysregulation-eosinophilia.md): A rare immune condition in which an overactive JAK1 signalling protein drives inflammation and allergy-like problems. It is caused by gain-of-function changes in one copy of the JAK1 gene. - [Leukocyte Adhesion Deficiency](https://dantelabs.com/conditions/leukocyte-adhesion-deficiency.md): Inherited conditions in which white blood cells cannot stick to blood vessel walls and reach sites of infection, causing severe bacterial infections without pus, delayed separation of the umbilical cord and poor wound healing. Genes are ITGB2 (type 1), SLC35C1 (type 2) and FERMT3 (type 3, with bleeding). - [MTHFD1 Deficiency](https://dantelabs.com/conditions/mthfd1-deficiency.md): A rare inherited disorder of folate metabolism causing a weakened immune system and a type of anaemia with large red blood cells. It is caused by changes in both copies of the MTHFD1 gene. - [Mendelian Susceptibility to Mycobacterial Disease (MSMD)](https://dantelabs.com/conditions/mendelian-susceptibility-to-mycobacterial-disease.md): Inherited defects in interferon-gamma immunity that predispose to severe infections with weak mycobacteria such as the BCG vaccine and environmental mycobacteria, as well as tuberculosis and salmonella. Genes include IL12RB1, IL12B, IFNGR1, IFNGR2, STAT1, IRF8, TYK2, ISG15 and RORC. - [Other Inborn Errors of Immunity](https://dantelabs.com/conditions/immunodeficiency-disease.md): Inherited conditions that weaken or misdirect the immune system, leading to frequent, severe or unusual infections, autoimmunity or inflammation. This report covers inborn errors of immunity that do not have their own dedicated report. Separate reports cover severe combined immunodeficiency, agammaglobulinaemia, common variable immunodeficiency, hyper-IgM syndromes, activated PI3K-delta syndrome, Wiskott-Aldrich syndrome, IPEX and other Tregopathies, ALPS, X-linked lymphoproliferative disease, ataxia-telangiectasia, MSMD, STAT1 and STAT3 gain-of-function, hyper-IgE syndrome, chronic granulomatous disease, leukocyte adhesion deficiency, complement deficiencies, familial HLH and other named immune conditions. - [Otofaciocervical Syndrome Type 2 (PAX1)](https://dantelabs.com/conditions/otofaciocervical-syndrome-2-pax1.md): A rare inherited condition affecting the ears, face and spine, together with severe immune deficiency caused by an absent or underdeveloped thymus. It is caused by changes in both copies of the PAX1 gene. - [PIK3R1-Related Disorders](https://dantelabs.com/conditions/pik3r1-related-disorders.md): Conditions caused by changes in one copy of the PIK3R1 gene: SHORT syndrome, which affects growth, the eyes, teeth and fat distribution, and an immune deficiency known as activated PI3K-delta syndrome 2. - [Purine Nucleoside Phosphorylase Deficiency](https://dantelabs.com/conditions/purine-nucleoside-phosphorylase-deficiency.md): A rare inherited immune deficiency in which T cells, a type of white blood cell, are lost, causing serious infections, often with neurological problems. It is caused by changes in both copies of the PNP gene. - [Rare Monogenic Autoinflammatory Diseases](https://dantelabs.com/conditions/rare-monogenic-autoinflammatory-diseases.md): Inherited conditions in which the innate immune system triggers inflammation without infection, causing fevers, rashes, joint, bone or gut inflammation. Each is caused by a single gene. - [SH2B3-Related Immune Dysregulation](https://dantelabs.com/conditions/sh2b3-related-immune-dysregulation.md): A rare inherited condition in which loss of a natural brake on blood cell and immune signalling leads to autoimmunity, enlarged lymph nodes and spleen, and overproduction of blood cells. It is caused by changes in the SH2B3 gene. - [STAT1 and STAT3 Gain-of-Function Disease](https://dantelabs.com/conditions/stat1-stat3-gain-of-function.md): Conditions caused by overactive STAT1 or STAT3 signalling proteins. STAT3 gain-of-function causes early-onset multisystem autoimmunity, and STAT1 gain-of-function causes autoimmunity, endocrine disease and infections, including chronic candidiasis, which is also covered in the Chronic Mucocutaneous Candidiasis report. - [Severe Combined Immunodeficiency](https://dantelabs.com/conditions/severe-combined-immunodeficiency.md): A group of rare disorders characterized by the absence or dysfunction of both T-lymphocytes and B-lymphocytes, leading to extreme susceptibility to infections. - [Sjogren Syndrome](https://dantelabs.com/conditions/sjogren-syndrome.md): An autoimmune disease primarily characterized by dry eyes and dry mouth due to immune-mediated destruction of moisture-producing glands. - [Systemic Lupus Erythematosus](https://dantelabs.com/conditions/systemic-lupus-erythematosus.md): An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. - [Type I Interferonopathies](https://dantelabs.com/conditions/type-1-interferonopathies.md): Rare inherited conditions in which the body's antiviral interferon signalling is switched on all the time, causing inflammation of the skin, blood vessels, lungs, joints or brain. - [WHIM Syndrome](https://dantelabs.com/conditions/whim-syndrome.md): A rare inherited immune deficiency named after its main features: warts, low antibody levels (hypogammaglobulinaemia), infections and white blood cells trapped in the bone marrow (myelokathexis). It is caused by changes in one copy of the CXCR4 gene. - [Wiskott-Aldrich Syndrome Spectrum](https://dantelabs.com/conditions/wiskott-aldrich-syndrome.md): Conditions caused by loss of the WAS protein or its partner WIP, which leads to small, low platelets with bleeding, eczema, recurrent infections and a raised risk of autoimmunity and lymphoma. Milder WAS changes cause X-linked thrombocytopenia, which also appears in the Inherited Thrombocytopenias report. - [X-Linked Lymphoproliferative Disease and XMEN](https://dantelabs.com/conditions/x-linked-lymphoproliferative-disease.md): X-linked conditions that leave boys unable to control Epstein-Barr virus (EBV) and other infections, leading to haemophagocytic lymphohistiocytosis (HLH), low antibodies, lymphoma or, in XLP2, colitis. Genes are SH2D1A (XLP1), XIAP (XLP2) and MAGT1 (XMEN disease). - [X-linked Autoinflammatory Disease](https://dantelabs.com/conditions/autoinflammatory-disease-x-linked.md): An X-linked genetic disorder involving dysregulation of the innate immune system, leading to recurrent episodes of inflammation. - [2-Aminoadipic 2-Oxoadipic Aciduria](https://dantelabs.com/conditions/2-aminoadipic-2-oxoadipic-aciduria.md): A rare inherited difference in how the body breaks down the amino acids lysine and tryptophan, found as raised acids in the urine. Symptoms vary, and some people have neurological problems. It is caused by changes in both copies of the DHTKD1 gene. - [2-Methylbutyryl-CoA Dehydrogenase Deficiency](https://dantelabs.com/conditions/2-methylbutyryl-coa-dehydrogenase-deficiency-acadsb.md): An inherited difference in how the body breaks down the amino acid isoleucine, usually picked up on newborn screening. Most people found this way stay well. It is caused by changes in the ACADSB gene. - [3-Methylglutaconic Aciduria Type 1](https://dantelabs.com/conditions/3-methylglutaconic-aciduria-type-1.md): A rare inherited metabolic condition in which the body cannot fully break down leucine, a building block of protein. It is caused by changes in both copies of the AUH gene and ranges from no symptoms to a slowly progressive brain white-matter disease in adulthood. - [3-Methylglutaconic Aciduria Type 8 (HTRA2)](https://dantelabs.com/conditions/3-methylglutaconic-aciduria-type-8-htra2.md): A rare and severe inherited disorder of the mitochondria, the energy-producing parts of cells, that begins at or soon after birth with low muscle tone, breathing difficulties and seizures. It is caused by changes in both copies of the HTRA2 gene. - [3-Methylglutaconic Aciduria Type 9 (TIMM50)](https://dantelabs.com/conditions/3-methylglutaconic-aciduria-type-9-timm50.md): A rare inherited mitochondrial disorder of early childhood causing seizures, developmental delay and raised levels of 3-methylglutaconic acid in the urine. It is caused by changes in both copies of the TIMM50 gene, which helps import proteins into mitochondria. - [ACBD5 Deficiency](https://dantelabs.com/conditions/acbd5-deficiency.md): A very rare inherited peroxisomal disorder in which very-long-chain fatty acids build up, causing progressive loss of vision and nerve problems. It is caused by changes in both copies of the ACBD5 gene. - [Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Types A and B)](https://dantelabs.com/conditions/acid-sphingomyelinase-deficiency.md): An inherited lysosomal storage disease caused by SMPD1 variants, ranging from the severe infantile neurological form (type A) to the chronic visceral form (type B). Niemann-Pick disease type C is a different condition with its own report. - [Alkaptonuria](https://dantelabs.com/conditions/alkaptonuria.md): An inherited metabolic disorder characterized by the body's inability to metabolize homogentisic acid, which accumulates in tissues, leading to dark urine, ochronosis, and severe early-onset osteoarthritis. - [Alpha-Mannosidosis and Other Glycoproteinoses](https://dantelabs.com/conditions/alpha-mannosidosis-and-glycoproteinoses.md): Inherited lysosomal storage diseases in which sugar chains from glycoproteins cannot be broken down, including alpha-mannosidosis, fucosidosis, aspartylglucosaminuria, sialidosis and galactosialidosis. Mucolipidoses have their own report. - [Aminoacylase 1 Deficiency](https://dantelabs.com/conditions/aminoacylase-1-deficiency.md): A rare inherited metabolic condition in which the body cannot fully break down certain modified amino acids, which then appear in the urine. It is caused by changes in both copies of the ACY1 gene, and its effects on health are variable and not fully understood. - [BCAT2 Deficiency (Hypervalinaemia and Hyperleucine-Isoleucinaemia)](https://dantelabs.com/conditions/bcat2-deficiency-hypervalinaemia.md): A very rare inherited metabolic condition in which the body cannot properly start breaking down the branched-chain amino acids valine, leucine and isoleucine, so their levels in the blood rise. It is caused by changes in both copies of the BCAT2 gene. - [BCKDK Deficiency](https://dantelabs.com/conditions/bckdk-deficiency.md): A rare inherited metabolic condition in which the body breaks down branched-chain amino acids too quickly, leading to low levels and effects on brain development. It is caused by changes in both copies of the BCKDK gene and may respond to dietary treatment. - [BH4 Deficiency & Monoamine Neurotransmitter Disorders](https://dantelabs.com/conditions/bh4-deficiency-and-neurotransmitter-disorders.md): Inherited disorders affecting tetrahydrobiopterin (BH4) or the production and transport of the brain chemicals dopamine and serotonin. Several can be detected through newborn phenylalanine screening and many respond to targeted treatment. - [Beta-ureidopropionase deficiency](https://dantelabs.com/conditions/beta-ureidopropionase-deficiency.md): Beta-ureidopropionase deficiency is a rare hereditary metabolic disorder. The condition causes an excess of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine. - [Biotinidase & Holocarboxylase Deficiency](https://dantelabs.com/conditions/biotinidase-and-holocarboxylase-deficiency.md): Inherited disorders that stop the body from recycling or using biotin (vitamin B7), leading to a shortage of several biotin-dependent enzymes. Lifelong biotin supplements, started early, usually prevent symptoms. - [Cerebral Creatine Deficiency Syndromes](https://dantelabs.com/conditions/cerebral-creatine-deficiency-syndromes.md): Inherited disorders in which the brain lacks creatine, an energy-storage molecule, because it is not made or not transported properly. Some forms respond well to supplements when found early. - [Citrullinemia](https://dantelabs.com/conditions/citrullinemia.md): A genetic disorder of the urea cycle characterized by elevated citrulline levels in the blood due to a deficiency in argininosuccinate synthetase. - [Classic Organic Acidurias](https://dantelabs.com/conditions/classic-organic-acidurias.md): A group of inherited disorders in the breakdown of amino acids or ketones, including glutaric aciduria type 1, isovaleric acidemia and beta-ketothiolase deficiency. Early diet and emergency treatment during illness can prevent serious complications. - [Congenital Analbuminaemia](https://dantelabs.com/conditions/congenital-analbuminaemia.md): A rare inherited condition in which the blood contains little or no albumin, the main protein in blood plasma. Symptoms are often surprisingly mild. It is caused by changes in both copies of the ALB gene. - [Congenital Disorders of Glycosylation](https://dantelabs.com/conditions/disorder-of-glycosylation.md): Inherited conditions in which sugar chains are not correctly added to proteins and lipids, often affecting the brain, liver, blood clotting and growth. This general report sits beside the dedicated GPI Anchor Biosynthesis Defects, Congenital Muscular Dystrophies and Congenital Myasthenic Syndrome reports. - [Cystathioninuria](https://dantelabs.com/conditions/cystathioninuria-cth.md): An inherited difference in how the body processes the amino acid methionine, which leads to high levels of a substance called cystathionine in the urine. Its health effects vary and are debated, and it is caused by changes in both copies of the CTH gene. - [Cystinosis](https://dantelabs.com/conditions/cystinosis.md): An inherited lysosomal storage disease caused by CTNS variants, in which cystine crystals build up in the kidneys, eyes and other organs. - [DCMA Syndrome (3-Methylglutaconic Aciduria Type 5)](https://dantelabs.com/conditions/dcma-syndrome-dnajc19.md): A rare inherited condition combining a weakened, enlarged heart muscle (dilated cardiomyopathy) with unsteady movement and slow growth. It is caused by changes in both copies of the DNAJC19 gene, which helps the cell's energy-producing mitochondria work. - [Danon Disease](https://dantelabs.com/conditions/danon-disease.md): An X-linked lysosomal disorder caused by LAMP2 variants, mainly affecting the heart, with skeletal muscle weakness and learning difficulties, more severe in males. - [Desmosterolosis](https://dantelabs.com/conditions/desmosterolosis.md): A very rare inherited disorder of cholesterol production in which desmosterol builds up, causing brain malformations, developmental delay and other birth differences. It is caused by changes in both copies of the DHCR24 gene. - [Diabetes Mellitus](https://dantelabs.com/conditions/diabetes-mellitus.md): A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. - [Disorder of Copper Metabolism](https://dantelabs.com/conditions/disorder-of-copper-metabolism.md): An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. - [Disorders of Glycine & Serine Metabolism](https://dantelabs.com/conditions/glycine-and-serine-metabolism-disorders.md): Inherited disorders affecting the breakdown of glycine or the production of serine, two amino acids important for brain development. Some forms respond well to early treatment. - [ECHS1 Deficiency](https://dantelabs.com/conditions/echs1-deficiency.md): A rare inherited mitochondrial disorder that mainly affects the brain. It is caused by changes in both copies of the ECHS1 gene, which makes a mitochondrial enzyme involved in breaking down fatty acids. - [FLAD1-Related Lipid Storage Myopathy](https://dantelabs.com/conditions/flad1-related-lipid-storage-myopathy.md): An inherited condition in which muscles cannot properly burn fat for energy, causing muscle weakness and exercise intolerance. It is caused by changes in both copies of the FLAD1 gene, and some people respond to riboflavin. - [Fabry Disease](https://dantelabs.com/conditions/fabry-disease.md): An inherited lysosomal storage disorder caused by variants in the GLA gene, in which a fatty substance (Gb3) builds up in the body's cells. It can cause pain, kidney disease, heart problems and stroke, and affects both males and females. - [Familial Hypercholesterolemia](https://dantelabs.com/conditions/familial-hypercholesterolemia.md): An inherited metabolic disorder characterized by extremely high levels of low-density lipoprotein (LDL) cholesterol in the blood, leading to premature cardiovascular disease. - [Fatty Acid Oxidation & Carnitine Cycle Disorders](https://dantelabs.com/conditions/fatty-acid-oxidation-and-carnitine-cycle-disorders.md): Inherited conditions in which the body cannot properly break down fat for energy, including MCAD deficiency, primary carnitine deficiency and CPT1A and CPT2 deficiency. Problems usually appear during fasting, illness or prolonged exercise and are largely preventable once known. - [GM1 Gangliosidosis and Morquio B Syndrome](https://dantelabs.com/conditions/gm1-gangliosidosis.md): Inherited lysosomal storage diseases caused by GLB1 variants that reduce beta-galactosidase, presenting either as neurodegenerative GM1 gangliosidosis or as Morquio B syndrome with mainly skeletal features. - [GPI Anchor Biosynthesis Defects](https://dantelabs.com/conditions/gpi-anchor-biosynthesis-defects.md): Inherited conditions in which cells cannot correctly build or attach the glycosylphosphatidylinositol (GPI) anchor that holds many proteins on the cell surface. They usually cause developmental delay and seizures from early childhood, often with a raised blood alkaline phosphatase. - [Galactosemia](https://dantelabs.com/conditions/galactosemia.md): Inherited disorders in which the body cannot properly process galactose, a sugar found in milk. Classic galactosemia is included in many newborn screening programmes and is managed with a galactose-restricted diet. - [Gaucher Disease](https://dantelabs.com/conditions/gaucher-disease.md): An inherited lysosomal storage disorder caused by variants in the GBA1 gene, in which a fatty substance (glucocerebroside) builds up, mainly in the spleen, liver and bone marrow. Type 1 is the most common; types 2 and 3 also affect the brain. - [Gilbert Syndrome](https://dantelabs.com/conditions/gilbert-syndrome.md): An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice. - [Glutaminase Deficiency](https://dantelabs.com/conditions/glutaminase-deficiency-gls.md): A rare inherited metabolic disorder in which the body cannot properly break down glutamine, an amino acid also used to make brain signalling chemicals. It is caused by changes in both copies of the GLS gene. - [Glutathione Synthetase Deficiency](https://dantelabs.com/conditions/glutathione-synthetase-deficiency.md): Glutathione synthetase deficiency is a rare inherited metabolic disorder that prevents the body from producing enough glutathione, an important antioxidant molecule that protects cells from damage. - [Glycerol Kinase Deficiency](https://dantelabs.com/conditions/glycerol-kinase-deficiency.md): An inherited condition in which the body cannot use glycerol, a building block of fats. It can be mistaken for very high triglycerides in blood tests and is caused by changes in the GK gene on the X chromosome. - [Glycogen Storage Disease](https://dantelabs.com/conditions/glycogen-storage-disease.md): A group of rare genetic metabolic disorders caused by enzyme deficiencies that affect the body's ability to store or break down glycogen, leading to its abnormal accumulation in various tissues like the liver and muscles, and resulting in a range of health issues. - [Glycogen Storage Disease IXd](https://dantelabs.com/conditions/glycogen-storage-disease-ixd-phka1.md): A mild inherited muscle metabolism condition that can cause exercise intolerance, muscle cramps and pain. It is caused by changes in the PHKA1 gene on the X chromosome and mainly affects males. - [HIBCH Deficiency](https://dantelabs.com/conditions/hibch-deficiency.md): A rare inherited metabolic disorder in which the body cannot properly break down the amino acid valine, leading to a build-up of by-products that mainly affect the brain, most often starting in infancy. It is caused by changes in both copies of the HIBCH gene. - [HSD10 Mitochondrial Disease](https://dantelabs.com/conditions/hsd10-mitochondrial-disease.md): A rare X-linked metabolic and mitochondrial disorder that usually causes loss of skills in early childhood, often with heart muscle disease. It is caused by changes in the HSD17B10 gene and mainly affects boys. - [Hartnup Disease](https://dantelabs.com/conditions/hartnup-disease.md): An inherited difference in how the gut and kidneys absorb certain amino acids, including tryptophan. Most people have no symptoms, but some develop a sun-sensitive rash or episodes of unsteadiness. It is caused by changes in both copies of SLC6A19. - [Hemochromatosis](https://dantelabs.com/conditions/hemochromatosis.md): A genetic disorder characterized by the excessive absorption and accumulation of iron in body tissues, leading to organ damage, especially in the liver, heart, and pancreas. - [Hepatic Porphyria Disorders](https://dantelabs.com/conditions/hepatic-porphyria-disorders.md): A group of rare metabolic disorders primarily affecting the liver, characterized by enzymatic defects in heme synthesis leading to porphyrin accumulation. - [Hereditary Amyloidosis](https://dantelabs.com/conditions/hereditary-amyloidosis-145.md): A group of genetic diseases characterized by the abnormal deposition of amyloid proteins in various tissues, causing organ damage and dysfunction. - [Hereditary Fructose Intolerance & Gluconeogenesis Defects](https://dantelabs.com/conditions/hereditary-fructose-intolerance-and-gluconeogenesis-defects.md): Inherited disorders affecting how the body handles fructose or makes new glucose between meals. Avoiding specific sugars or prolonged fasting usually prevents symptoms. - [Hereditary Hypolipoproteinemias](https://dantelabs.com/conditions/hereditary-hypolipoproteinemias.md): Inherited conditions that cause very low levels of LDL or HDL cholesterol, including abetalipoproteinemia, familial hypobetalipoproteinemia, chylomicron retention disease, Tangier disease and LCAT deficiency. Some forms interfere with absorbing fat and fat-soluble vitamins. - [Hermansky-Pudlak Syndrome](https://dantelabs.com/conditions/hermansky-pudlak-syndrome.md): A rare, inherited disorder characterized by oculocutaneous albinism, a bleeding diathesis due to platelet dysfunction, and lysosomal accumulation of ceroid-like material which can lead to organ damage such as pulmonary fibrosis and granulomatous colitis. - [Homocystinuria & Cobalamin Disorders](https://dantelabs.com/conditions/homocystinuria-and-cobalamin-disorders.md): Inherited disorders that raise homocysteine levels or prevent the body from absorbing, transporting or using vitamin B12 (cobalamin) and folate, including classic homocystinuria, cblC disease and Imerslund-Gräsbeck syndrome. Many are treatable with vitamins, betaine or diet. Common MTHFR variants such as C677T are not part of this report. - [Hypercalcemia Infantile](https://dantelabs.com/conditions/hypercalcemia-infantile.md): A hypercalcemia disease that occurs between 28 days to one year of life. - [Hyperlipidemia](https://dantelabs.com/conditions/hyperlipidemia.md): A condition characterized by abnormally high levels of lipids (fats), including cholesterol and triglycerides, in the blood, which is a significant risk factor for cardiovascular disease. - [Hyperlysinaemia](https://dantelabs.com/conditions/hyperlysinaemia.md): A rare inherited difference in lysine breakdown that causes high levels of the amino acid lysine in the blood. Many people have no symptoms and usually need no treatment. It is caused by changes in both copies of the AASS gene. - [Hyperphosphataemic Familial Tumoral Calcinosis (GALNT3)](https://dantelabs.com/conditions/hyperphosphataemic-familial-tumoral-calcinosis-galnt3.md): A rare inherited condition in which high phosphate levels lead to hard calcium deposits forming around joints and in other tissues. It is caused by changes in both copies of the GALNT3 gene. - [Hyperprolinaemia Type 1](https://dantelabs.com/conditions/hyperprolinemia-type-1-prodh.md): An inherited condition in which the amino acid proline builds up in the blood. Many people have no symptoms, while some have seizures, learning difficulties or psychiatric features. It is caused by changes in both copies of the PRODH gene. - [Hyperprolinaemia Type 2](https://dantelabs.com/conditions/hyperprolinaemia-type-2-aldh4a1.md): A rare inherited metabolic condition in which the amino acid proline and a related compound build up in the blood. Some people have seizures or learning difficulties. It is caused by changes in ALDH4A1. - [Hypertriglyceridemia](https://dantelabs.com/conditions/hypertriglyceridemia.md): Elevated triglyceride concentration in the blood. - [Hypophosphatasia](https://dantelabs.com/conditions/hypophosphatasia.md): A rare genetic disorder characterized by defective bone and tooth mineralization due to deficient alkaline phosphatase activity. - [Isobutyryl-CoA Dehydrogenase Deficiency](https://dantelabs.com/conditions/isobutyryl-coa-dehydrogenase-deficiency.md): An inherited condition affecting the breakdown of valine, a building block of protein. It is often found through newborn screening and most people have no symptoms. It is caused by changes in both copies of the ACAD8 gene. - [Lipodystrophy](https://dantelabs.com/conditions/lipodystrophy.md): A group of rare disorders characterized by the selective loss or abnormal accumulation of adipose (fat) tissue in specific areas of the body, often leading to metabolic complications such as insulin resistance, diabetes, and dyslipidemia. - [Lysosomal Acid Lipase Deficiency (Wolman Disease and CESD)](https://dantelabs.com/conditions/lysosomal-acid-lipase-deficiency.md): An inherited lysosomal storage disease caused by LIPA variants, ranging from rapidly fatal infantile Wolman disease to cholesteryl ester storage disease in children and adults. - [Lysosomal Storage Disease](https://dantelabs.com/conditions/lysosomal-storage-disease.md): A group of inherited metabolic disorders caused by faulty lysosomal enzymes, membrane proteins or enzyme-trafficking proteins, which lets undigested material build up inside cells. This report covers lysosomal storage diseases that do not have their own report; dedicated reports cover the mucopolysaccharidoses (MPS I, II, III, IVA, VI and VII), Gaucher, Fabry, Pompe, Niemann-Pick type C, acid sphingomyelinase deficiency (Niemann-Pick A and B), Tay-Sachs, Sandhoff, GM1 gangliosidosis, the glycoproteinoses including alpha-mannosidosis, the mucolipidoses, lysosomal acid lipase deficiency, cystinosis, Salla disease, Danon disease and neuronal ceroid lipofuscinosis. - [MDPL Syndrome](https://dantelabs.com/conditions/mdpl-syndrome-pold1.md): A rare condition causing an underdeveloped lower jaw, hearing loss, an aged appearance and loss of fat tissue (lipodystrophy), with related metabolic problems. It is caused by a change in one copy of POLD1, a gene needed for copying DNA. - [MEND Syndrome](https://dantelabs.com/conditions/mend-syndrome-ebp.md): A rare X-linked condition in boys and men affecting cholesterol production, causing intellectual disability along with skin, skeletal and facial differences. It is caused by changes in the EBP gene. - [Maple Syrup Urine Disease](https://dantelabs.com/conditions/maple-syrup-urine-disease.md): An inherited disorder in which the body cannot break down the branched-chain amino acids leucine, isoleucine and valine. It is included in many newborn screening programmes and is managed with a lifelong specialised diet. - [McArdle's disease](https://dantelabs.com/conditions/mcardle-s-disease.md): Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance. - [Methylmalonic & Propionic Acidemia](https://dantelabs.com/conditions/methylmalonic-and-propionic-acidemia.md): Inherited organic acid disorders in which the body cannot fully break down certain amino acids and fats, leading to a build-up of toxic acids. They are included in many newborn screening programmes and are managed with diet and medical treatment. - [Mucolipidoses (ML II, ML III and ML IV)](https://dantelabs.com/conditions/mucolipidoses.md): Inherited lysosomal storage diseases caused by GNPTAB or GNPTG variants (I-cell disease and pseudo-Hurler polydystrophy) or MCOLN1 variants (mucolipidosis IV). Sialidosis, once called mucolipidosis I, is covered in the Glycoproteinoses report. - [Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)](https://dantelabs.com/conditions/mucopolysaccharidosis-type-1.md): An inherited lysosomal storage disease caused by IDUA variants, ranging from severe Hurler syndrome to the milder Hurler-Scheie and Scheie forms. - [Mucopolysaccharidosis Type II (Hunter Syndrome)](https://dantelabs.com/conditions/mucopolysaccharidosis-type-2.md): An X-linked lysosomal storage disease caused by IDS variants that mainly affects boys, with severe and attenuated forms. - [Mucopolysaccharidosis Type III (Sanfilippo Syndrome)](https://dantelabs.com/conditions/mucopolysaccharidosis-type-3.md): A group of inherited lysosomal storage diseases caused by variants in SGSH, NAGLU, HGSNAT or GNS, in which childhood neurodegeneration dominates over physical features. - [Mucopolysaccharidosis Type IVA (Morquio A Syndrome)](https://dantelabs.com/conditions/mucopolysaccharidosis-type-4a.md): An inherited lysosomal storage disease caused by GALNS variants that mainly affects the skeleton, with normal intelligence. Morquio B, caused by GLB1, is covered in the GM1 Gangliosidosis report. - [Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)](https://dantelabs.com/conditions/mucopolysaccharidosis-type-6.md): An inherited lysosomal storage disease caused by ARSB variants, with skeletal, joint, eye, heart and airway involvement and usually normal intelligence. - [Mucopolysaccharidosis Type VII (Sly Syndrome)](https://dantelabs.com/conditions/mucopolysaccharidosis-type-7.md): A rare inherited lysosomal storage disease caused by GUSB variants, ranging from fetal hydrops to milder forms with skeletal and organ involvement. - [Mucopolysaccharidosis-Plus Syndrome](https://dantelabs.com/conditions/mucopolysaccharidosis-plus-syndrome-vps33a.md): A rare inherited condition that resembles the mucopolysaccharidoses, with additional kidney, heart and blood problems. It is caused by changes in both copies of the VPS33A gene. - [Myalgic Encephalomyelitis / Chronic Fatigue Syndrome](https://dantelabs.com/conditions/me-cfs.md): Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a disorder characterised by lethargy. The etiology of the condition is unknown but studies have suggested a hereditary component. - [NGLY1 Deficiency](https://dantelabs.com/conditions/ngly1-deficiency.md): A rare inherited condition in which cells cannot properly recycle certain sugar-tagged proteins, causing developmental delay, a movement disorder, reduced tears and liver problems. It is caused by changes in both copies of the NGLY1 gene. - [Niemann-Pick Disease Type C](https://dantelabs.com/conditions/niemann-pick-disease-type-c.md): NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment. - [P5CS Deficiency (ALDH18A1-Related)](https://dantelabs.com/conditions/p5cs-deficiency-aldh18a1.md): A rare inherited metabolic condition in which the body makes too little proline and related amino acids, causing loose skin, eye problems, developmental delay or leg stiffness. It is caused by changes in the ALDH18A1 gene. - [Peroxisomal Enzyme Disorders & Refsum Disease](https://dantelabs.com/conditions/peroxisomal-enzyme-disorders-and-refsum-disease.md): Inherited disorders of single enzymes in peroxisomes, cell structures that break down certain fats, including adult Refsum disease, D-bifunctional protein deficiency and rhizomelic chondrodysplasia punctata types 2 and 3. Adult Refsum disease is treatable with diet. - [Phenylketonuria (PKU)](https://dantelabs.com/conditions/phenylketonuria.md): An inherited metabolic disorder caused by variants in the PAH gene, in which the body cannot break down the amino acid phenylalanine. Without a special diet from infancy, phenylalanine builds up and damages the brain. - [Pompe Disease](https://dantelabs.com/conditions/pompe-disease.md): An inherited lysosomal storage disorder caused by variants in the GAA gene, in which glycogen builds up in muscle. It ranges from a severe infantile form affecting the heart to a later-onset form with progressive muscle and breathing weakness. - [Porphyria](https://dantelabs.com/conditions/porphyria.md): A group of rare genetic disorders resulting from defects in heme synthesis, causing the accumulation of porphyrins and precursors, and manifesting in neurological, psychiatric, or skin symptoms. - [Primary Hyperoxaluria](https://dantelabs.com/conditions/primary-hyperoxaluria-238.md): A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria. - [Primary Mitochondrial Disease](https://dantelabs.com/conditions/primary-mitochondrial-disease.md): A group of inherited disorders that impair the mitochondria, the energy-producing structures in cells, caused by variants in nuclear genes such as POLG or in mitochondrial DNA. Leigh syndrome and hereditary optic neuropathies are covered in their own reports. - [Purine & Pyrimidine Metabolism Disorders](https://dantelabs.com/conditions/purine-and-pyrimidine-metabolism-disorders.md): Inherited disorders in the making, recycling or breakdown of purines and pyrimidines, the building blocks of DNA. They range from kidney stones and gout to neurological disease, and some affect how certain cancer drugs are tolerated. - [Pyruvate Dehydrogenase & Pyruvate Carboxylase Deficiency](https://dantelabs.com/conditions/pyruvate-dehydrogenase-and-pyruvate-carboxylase-deficiency.md): Inherited disorders affecting how cells use pyruvate, a key step in turning glucose into energy. They can cause lactic acidosis and neurological problems, and the right diet depends on the specific defect. - [Salla Disease and Free Sialic Acid Storage Disease](https://dantelabs.com/conditions/free-sialic-acid-storage-disease.md): Inherited lysosomal storage diseases caused by SLC17A5 variants that block the export of free sialic acid from lysosomes, ranging from slowly progressive Salla disease to severe infantile disease. - [Sandhoff Disease and GM2 Activator Deficiency](https://dantelabs.com/conditions/sandhoff-disease.md): Inherited GM2 gangliosidoses closely related to Tay-Sachs disease, caused by HEXB variants (Sandhoff disease) or GM2A variants (AB variant). Tay-Sachs disease has its own report. - [Succinic Semialdehyde Dehydrogenase Deficiency](https://dantelabs.com/conditions/succinic-semialdehyde-dehydrogenase-deficiency.md): An inherited metabolic condition in which the brain cannot properly break down the signalling chemical GABA, causing developmental delay, low muscle tone and behavioural differences. It is caused by changes in both copies of ALDH5A1. - [Tay-Sachs Disease](https://dantelabs.com/conditions/tay-sachs-disease.md): GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency. - [Trimethylaminuria](https://dantelabs.com/conditions/trimethylaminuria.md): An inherited condition, sometimes called fish-odour syndrome, in which the body cannot break down trimethylamine, a strong-smelling compound produced from certain foods. It is not harmful to physical health but can have a large social impact. - [Tyrosinemia](https://dantelabs.com/conditions/tyrosinemia.md): A genetic disorder characterized by the body's inability to effectively break down the amino acid tyrosine, leading to an accumulation of tyrosine and its metabolites in the blood and tissues, potentially causing liver, kidney, and neurological problems. - [Urea Cycle Disorder](https://dantelabs.com/conditions/urea-cycle-disorder.md): A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. - [Very Long Chain Acyl-Coa Dehydrogenase Deficiency](https://dantelabs.com/conditions/very-long-chain-acyl-coa-dehydrogenase-deficiency.md): An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis. - [Wilson Disease](https://dantelabs.com/conditions/wilson-disease.md): A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. - [3MC Syndrome 1 (MASP1)](https://dantelabs.com/conditions/3mc-syndrome-1-masp1.md): A rare developmental syndrome affecting the face, skull and skeleton, with distinctive facial features, cleft lip or palate, growth delay and sometimes learning difficulties. It is caused by changes in both copies of the MASP1 gene. - [ACAN-Related Short Stature](https://dantelabs.com/conditions/acan-related-short-stature.md): An inherited condition causing short stature, often with an advanced bone age and early-onset joint problems such as osteoarthritis. It is caused by a change in one copy of the ACAN gene, which makes aggrecan, a key component of cartilage. - [ACCES Syndrome (UBA2)](https://dantelabs.com/conditions/acces-syndrome-uba2.md): A rare developmental condition that can affect the scalp skin, the hands and feet, the face and the skeleton, sometimes with developmental delay. It is caused by changes in one copy of the UBA2 gene. - [Aarskog-Scott Syndrome](https://dantelabs.com/conditions/aarskog-scott-syndrome-fgd1.md): An X-linked condition, mainly affecting boys, that causes short stature and characteristic differences of the face, hands and genitals. It is caused by changes in the FGD1 gene on the X chromosome. - [Achondrogenesis panel](https://dantelabs.com/conditions/achondrogenesis-panel.md): A genetic test for mutations associated with Achondrogenesis, a severe skeletal dysplasia. - [Acromelic Frontonasal Dysostosis](https://dantelabs.com/conditions/acromelic-frontonasal-dysostosis-zswim6.md): A very rare condition affecting the development of the face, brain and limbs, with wide-set eyes, a broad or split nasal tip and extra toes or shortened lower leg bones. It is caused by a specific change in the ZSWIM6 gene. - [Adams-Oliver Syndrome](https://dantelabs.com/conditions/adams-oliver-syndrome.md): A rare condition present at birth in which an area of skin, usually on the scalp, is missing, often together with shortened or missing fingers or toes. This report analyses the DOCK6, NOTCH1 and EOGT genes. - [Asphyxiating Thoracic Dystrophy 2 (IFT80)](https://dantelabs.com/conditions/asphyxiating-thoracic-dystrophy-2-ift80.md): A form of Jeune syndrome, a skeletal condition where short ribs make the chest narrow, which can affect breathing in early life. This type is caused by changes in both copies of the IFT80 gene, which is needed for cilia to work. - [Auriculocondylar Syndrome 2 (PLCB4)](https://dantelabs.com/conditions/auriculocondylar-syndrome-2-plcb4.md): A rare condition affecting how the ears and lower jaw form before birth, giving a characteristic ear shape and a small jaw that can affect breathing and feeding. It is caused by changes in the PLCB4 gene. - [Bailey-Bloch Congenital Myopathy](https://dantelabs.com/conditions/bailey-bloch-congenital-myopathy-stac3.md): A rare muscle condition present from birth, causing weakness, a cleft palate and a raised risk of a severe reaction to some anaesthetics. It is caused by changes in both copies of the STAC3 gene and was first described in the Lumbee Native American community. - [Bent Bone Dysplasia Syndrome (FGFR2)](https://dantelabs.com/conditions/bent-bone-dysplasia-fgfr2.md): A very rare and severe skeletal condition present before birth, with bent long bones and changes to the skull. It is caused by a change in one copy of the FGFR2 gene. - [CHRNG-Related Multiple Pterygium Syndrome](https://dantelabs.com/conditions/chrng-related-multiple-pterygium-syndrome.md): A condition in which reduced movement before birth leads to joint contractures and webs of skin across joints (pterygia). It is caused by changes in both copies of CHRNG, a part of the muscle receptor that is active only in the developing fetus. Milder forms are known as Escobar syndrome. - [Caffey Disease](https://dantelabs.com/conditions/caffey-disease-infantile-cortical-hyperostosis.md): A condition of early infancy in which bones such as the jaw, collarbones and forearm bones become swollen and thickened, usually settling by about age two. It is linked to a specific change in the COL1A1 collagen gene. - [Campomelic Dysplasia](https://dantelabs.com/conditions/campomelic-dysplasia.md): A severe skeletal condition in which the long bones of the legs are bowed, often with breathing difficulties and, in genetic males, differences of sex development. It is caused by changes affecting one copy of the SOX9 gene. - [Carey-Fineman-Ziter Syndrome](https://dantelabs.com/conditions/carey-fineman-ziter-syndrome.md): A rare condition present from birth that causes weakness of the facial muscles, a small jaw with cleft palate, and muscle weakness. It is caused by changes in both copies of the MYMK gene, or more rarely MYMX, which help muscle cells fuse during development. - [Catel-Manzke Syndrome](https://dantelabs.com/conditions/catel-manzke-syndrome.md): A rare condition combining a small lower jaw (Pierre Robin sequence) and a distinctive extra bone at the base of the index fingers that makes them bend. It is caused by changes in both copies of the TGDS gene. - [Cenani-Lenz Syndactyly Syndrome](https://dantelabs.com/conditions/cenani-lenz-syndactyly-syndrome.md): A rare inherited condition in which fingers and toes are fused together, often with fused or shortened forearm bones and kidney differences such as underdeveloped kidneys. It is caused by changes in both copies of the LRP4 gene. - [Cherubism](https://dantelabs.com/conditions/cherubism.md): An inherited condition in which fibrous tissue replaces bone in the lower and upper jaw during childhood, giving rounded cheeks; it usually stabilises or improves after puberty. - [Cleidocranial Dysplasia](https://dantelabs.com/conditions/cleidocranial-dysplasia.md): An inherited condition affecting the development of bones and teeth, with underdeveloped or absent collarbones, delayed closure of the skull bones and characteristic dental problems. - [Congenital Muscular Dystrophies](https://dantelabs.com/conditions/congenital-muscular-dystrophies.md): Inherited muscle disorders that begin at or soon after birth, causing weakness, low muscle tone and joint stiffness. Some forms also affect the brain and eyes. - [Congenital Myopathies](https://dantelabs.com/conditions/congenital-myopathies.md): Inherited muscle disorders, usually present from birth or early childhood, that cause muscle weakness and low muscle tone. Some forms, particularly those caused by RYR1 variants, also increase the risk of malignant hyperthermia during anesthesia. - [Cornelia de Lange Syndrome](https://dantelabs.com/conditions/cornelia-de-lange-syndrome.md): A rare genetic syndrome, usually arising new in a child, with distinctive facial features, slow growth, intellectual disability and, in some people, limb differences. - [Craniofrontonasal Syndrome](https://dantelabs.com/conditions/craniofrontonasal-syndrome-efnb1.md): An X-linked condition affecting the shape of the skull and face, including widely spaced eyes and early fusion of skull bones. Unusually, females are more noticeably affected than males. It is caused by changes in the EFNB1 gene. - [Curry-Jones Syndrome (Mosaic SMO Syndrome)](https://dantelabs.com/conditions/curry-jones-syndrome-mosaic-smo.md): A rare condition present from birth affecting the skull, skin, hands and feet, brain, eyes and gut. It is caused by a change in the SMO gene that is present in only some of the body's cells (mosaicism) and is not usually inherited. - [Desbuquois Dysplasia 1](https://dantelabs.com/conditions/desbuquois-dysplasia-1-cant1.md): A rare skeletal dysplasia causing short stature from before birth, very loose joints with dislocations and characteristic changes on X-ray. It is caused by changes in both copies of the CANT1 gene. - [Distal Myopathies](https://dantelabs.com/conditions/distal-myopathies.md): A group of rare, inherited muscle disorders characterized by progressive weakness and wasting that predominantly affect muscles in the distal limbs (hands, feet, forearms, and lower legs). - [Dyssegmental Dysplasia, Silverman-Handmaker Type](https://dantelabs.com/conditions/dyssegmental-dysplasia-silverman-handmaker-hspg2.md): A rare and severe skeletal dysplasia present before birth, with irregular spinal bones and very short limbs. It is usually fatal around birth and is caused by changes in both copies of the HSPG2 gene. - [Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)](https://dantelabs.com/conditions/duchenne-muscular-dystrophy.md): Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle. - [Ehlers-Danlos Syndrome](https://dantelabs.com/conditions/ehlers-danlos-syndrome.md): A group of inherited disorders that affect connective tissue, primarily causing joint hypermobility, skin hyperextensibility, and tissue fragility due to defects in collagen synthesis or structure. - [Elsahy-Waters Syndrome](https://dantelabs.com/conditions/elsahy-waters-syndrome.md): A rare inherited condition affecting the face, teeth, spine and genitals, with distinctive facial features, dental problems and fused neck vertebrae. It is caused by changes in both copies of the CDH11 gene. - [Enlarged Parietal Foramina (MSX2)](https://dantelabs.com/conditions/enlarged-parietal-foramina-msx2.md): An inherited skull difference in which two openings in the bones at the top-back of the head are larger than usual. It often causes no symptoms. This report covers the form caused by changes in one copy of the MSX2 gene. - [Epiphyseal and Spondyloepiphyseal Dysplasias](https://dantelabs.com/conditions/epiphyseal-and-spondyloepiphyseal-dysplasias.md): Inherited skeletal conditions that affect the ends of the long bones and, in some forms, the spine. They can cause short stature, joint pain and early-onset osteoarthritis. - [FAM111A-Related Skeletal Dysplasia](https://dantelabs.com/conditions/fam111a-related-skeletal-dysplasia.md): A group of rare bone conditions ranging from Kenny-Caffey syndrome, with short stature, thickened bones and low calcium, to a severe form called osteocraniostenosis. It is caused by a change in one copy of the FAM111A gene. - [FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)](https://dantelabs.com/conditions/fgfr3-related-chondrodysplasias.md): A group of skeletal dysplasias caused by variants in the FGFR3 gene that affect bone growth, ranging from hypochondroplasia and achondroplasia to the severe thanatophoric dysplasia. - [FLNB-Related Skeletal Dysplasia (Larsen Spectrum)](https://dantelabs.com/conditions/flnb-related-dominant-bone-disorder.md): A group of skeletal conditions, ranging from Larsen syndrome with multiple joint dislocations to severe forms that are lethal around birth. They are caused by changes in one copy of the FLNB gene. - [Facioscapulohumeral Muscular Dystrophy (FSHD)](https://dantelabs.com/conditions/facioscapulohumeral-muscular-dystrophy.md): An inherited muscular dystrophy that typically weakens the muscles of the face, shoulder blades and upper arms first, often unevenly on the two sides of the body. - [Familial Paget Disease of Bone](https://dantelabs.com/conditions/familial-paget-disease-of-bone.md): Inherited forms of Paget disease of bone, in which abnormal bone remodelling leads to enlarged, weakened bones, bone pain and deformity. - [Feingold Syndrome Type 1](https://dantelabs.com/conditions/feingold-syndrome-type-1-mycn.md): An inherited condition causing a small head, characteristic finger and toe differences and, in some people, blockages of the digestive tract at birth. It results from loss of one working copy of the MYCN gene. - [Floating-Harbor Syndrome](https://dantelabs.com/conditions/floating-harbor-syndrome.md): A rare genetic condition causing short stature with delayed bone age, delayed speech and language, and distinctive facial features. It is caused by a change in one copy of the SRCAP gene, usually arising for the first time in the affected person. - [Fontaine Progeroid Syndrome](https://dantelabs.com/conditions/fontaine-progeroid-syndrome-slc25a24.md): A rare condition with growth restriction from before birth, an aged appearance with little fat under the skin, and differences in the skull and face. It is caused by new changes in the SLC25A24 gene. - [Frank-Ter Haar Syndrome](https://dantelabs.com/conditions/frank-ter-haar-syndrome.md): A rare condition affecting the skull, eyes, heart and skeleton, with raised eye pressure (glaucoma) being common. It is caused by changes in both copies of the SH3PXD2B gene. - [Frontonasal Dysplasia with Alopecia and Genital Anomaly (ALX4)](https://dantelabs.com/conditions/frontonasal-dysplasia-alx4.md): A rare inherited condition affecting the development of the face and skull, with widely spaced eyes, a broad split nose tip, hair loss and genital differences in males. It is caused by changes in the ALX4 gene, in both copies in this recessive form. - [Frontorhiny](https://dantelabs.com/conditions/frontorhiny-alx3.md): A rare condition affecting the shape of the nose and the middle of the face, with widely spaced eyes and a broad, split nasal tip. It is caused by changes in both copies of the ALX3 gene. - [Ghosal Haematodiaphyseal Dysplasia](https://dantelabs.com/conditions/ghosal-haematodiaphyseal-dysplasia.md): A rare inherited bone condition in which the shafts of the long bones thicken and the bone marrow produces too few blood cells, causing anaemia. It is caused by changes in both copies of the TBXAS1 gene and usually responds to steroid treatment. - [Greig Cephalopolysyndactyly Syndrome](https://dantelabs.com/conditions/greig-cephalopolysyndactyly-syndrome.md): An inherited condition affecting the development of the limbs, head and face, with extra fingers or toes, webbing between digits, a large head and widely spaced eyes. It is caused by changes in or deletions of the GLI3 gene. - [HAAO-Related Congenital NAD Deficiency](https://dantelabs.com/conditions/haao-congenital-nad-deficiency.md): A rare condition in which a baby's body cannot make enough NAD, a molecule essential for cell energy, during development, causing malformations of the spine, heart, kidneys and limbs. It is caused by changes in both copies of the HAAO gene. - [Hajdu-Cheney Syndrome](https://dantelabs.com/conditions/hajdu-cheney-syndrome.md): A rare inherited bone disorder caused by NOTCH2 variants that leads to loss of bone at the fingertips, osteoporosis with fractures and distinctive facial features. - [Hand-Foot-Genital Syndrome](https://dantelabs.com/conditions/hand-foot-genital-syndrome-hoxa13.md): An inherited condition causing short thumbs and big toes together with differences of the urinary tract and genitals. It is caused by changes in one copy of the HOXA13 gene. - [Hereditary Fibromatoses](https://dantelabs.com/conditions/hereditary-fibromatoses.md): Inherited conditions in which fibrous tissue nodules or tumours form in the skin, muscle, bone or internal organs, including hyaline fibromatosis syndrome and infantile myofibromatosis. - [Hereditary Multiple Osteochondromas](https://dantelabs.com/conditions/hereditary-multiple-osteochondromas.md): An inherited condition in which multiple benign bony growths (osteochondromas) form near the growth plates during childhood, sometimes causing pain, limb deformity or reduced height. - [Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)](https://dantelabs.com/conditions/hereditary-rickets.md): Inherited forms of rickets caused by problems with how the body handles phosphate or activates and responds to vitamin D. They cause soft, weak bones, bowed legs and short stature, and most forms are treatable. - [INTU-Related Skeletal Ciliopathy](https://dantelabs.com/conditions/intu-related-skeletal-ciliopathy.md): A rare ciliopathy affecting skeletal development, with features such as short ribs, extra fingers or toes and mouth differences. It is caused by changes in both copies of the INTU gene, which is needed to form cilia. - [Inherited Arthropathies](https://dantelabs.com/conditions/inherited-arthropathies.md): Single-gene conditions affecting the joints, including familial calcium pyrophosphate crystal deposition and camptodactyly-arthropathy-coxa vara-pericarditis syndrome. - [Jeune Asphyxiating Thoracic Dystrophy (DYNC2H1)](https://dantelabs.com/conditions/jeune-asphyxiating-thoracic-dystrophy-dync2h1.md): An inherited skeletal condition in which short ribs give a narrow chest that can restrict breathing in infancy, often with short limbs and later kidney, liver or eye involvement. This report covers the form caused by changes in both copies of DYNC2H1. - [KYNU-Related Congenital NAD Deficiency](https://dantelabs.com/conditions/kynu-related-congenital-nad-deficiency.md): A rare condition present from birth with defects of the spine, heart, kidneys and limbs, caused by a shortage of the molecule NAD during development. It is caused by changes in both copies of the KYNU gene. - [Kabuki Syndrome](https://dantelabs.com/conditions/kabuki-syndrome.md): A rare genetic syndrome, usually arising new in a child, with distinctive facial features, learning difficulties and differences in several organ systems. - [Keutel Syndrome](https://dantelabs.com/conditions/keutel-syndrome.md): A rare inherited condition in which cartilage throughout the body becomes abnormally calcified, often with short fingertips and narrowing of the lung arteries. It is caused by changes in both copies of the MGP gene. - [Klippel-Feil Anomaly with Myopathy (MYO18B)](https://dantelabs.com/conditions/klippel-feil-myopathy-facial-dysmorphism-myo18b.md): A rare condition combining muscle weakness, fused bones in the neck (Klippel-Feil anomaly), short stature and distinctive facial features. It is caused by changes in both copies of the MYO18B gene. - [LPIN1-Related Recurrent Rhabdomyolysis](https://dantelabs.com/conditions/lpin1-related-recurrent-rhabdomyolysis.md): An inherited condition causing sudden, severe episodes of muscle breakdown in early childhood, often triggered by fever, which release muscle protein into the urine. It is caused by changes in both copies of the LPIN1 gene. - [Lethal Congenital Contracture Syndrome 11 (GLDN)](https://dantelabs.com/conditions/lethal-congenital-contracture-syndrome-11-gldn.md): A severe condition in which reduced movement before birth causes multiple joint contractures and breathing difficulties at birth. It is caused by changes in both copies of the GLDN gene, which is needed for nerve signalling. - [Limb-Girdle Muscular Dystrophy](https://dantelabs.com/conditions/limb-girdle-muscular-dystrophy.md): Limb-girdle muscular dystrophy is a muscle wasting condition. Muscles distal from the centre of the body often atrophy over the conditions progression. The disease is linked to mutations in the LGMD1 and LGMD2 genes as well as other genes involved in the development of complex nuclear structures and muscle development such as Titin, DES, LMNA [Lamin A], CAV3, and DNAJB6. - [MEGF10-Related Myopathy](https://dantelabs.com/conditions/megf10-related-myopathy.md): An inherited muscle condition that ranges from severe weakness in infancy with breathing and swallowing problems to a milder myopathy beginning later. It is caused by changes in both copies of the MEGF10 gene, which is needed for muscle formation. - [MTX2-Related Mandibuloacral Dysplasia](https://dantelabs.com/conditions/mandibuloacral-dysplasia-progeroid-syndrome-mtx2.md): A rare progeroid condition with a small lower jaw, loss of bone, loss of fat under the skin and slow growth. It is caused by changes in both copies of the MTX2 gene, which supports mitochondria. - [MYH2-Related Myopathy](https://dantelabs.com/conditions/myh2-related-myopathy.md): A rare inherited muscle disease causing weakness of the eye muscles and of the muscles around the hips and shoulders. It is caused by changes in the MYH2 gene, which makes a myosin protein in fast muscle fibres. - [Mandibulofacial Dysostosis with Microcephaly](https://dantelabs.com/conditions/mandibulofacial-dysostosis-with-microcephaly.md): A rare condition affecting the development of the face, jaw and ears, with a small head size, hearing loss and developmental delay. It is caused by loss of one working copy of the EFTUD2 gene. - [Marfan Like Syndromes](https://dantelabs.com/conditions/marfan-like-syndromes.md): A group of inherited connective tissue disorders that phenotypically resemble Marfan Syndrome, presenting with characteristic features in the skeletal, cardiovascular, and ocular systems, but are caused by distinct genetic mutations. - [Marshall-Smith Syndrome](https://dantelabs.com/conditions/marshall-smith-syndrome.md): A rare developmental condition with markedly advanced bone age, distinctive facial features and intellectual disability. It is caused by specific changes in one copy of the NFIX gene. - [Meier-Gorlin Syndrome 3 (ORC6)](https://dantelabs.com/conditions/meier-gorlin-syndrome-3-orc6.md): A form of Meier-Gorlin syndrome, a rare growth disorder marked by short stature, small ears and small or absent kneecaps, usually with normal intelligence. It is caused by changes in both copies of the ORC6 gene. - [Meier-Gorlin Syndrome 4](https://dantelabs.com/conditions/meier-gorlin-syndrome-4-cdt1.md): A rare growth condition causing short stature from before birth, small ears and small or absent kneecaps, usually with normal intelligence. It is caused by changes in both copies of the CDT1 gene. - [Meier-Gorlin Syndrome 7 (CDC45)](https://dantelabs.com/conditions/meier-gorlin-syndrome-7-cdc45.md): A rare inherited growth disorder with short stature, small ears and small or absent kneecaps; in this form, early fusion of skull bones is also common. It is caused by changes in both copies of the CDC45 gene. - [Microcephalic Osteodysplastic Primordial Dwarfism Type II](https://dantelabs.com/conditions/mopd2-microcephalic-osteodysplastic-primordial-dwarfism-type-2.md): A rare inherited condition causing very small body and head size from before birth, with skeletal differences and a risk of blood vessel problems in the brain. It is caused by changes in both copies of the PCNT gene. - [Miller Syndrome (Postaxial Acrofacial Dysostosis)](https://dantelabs.com/conditions/miller-syndrome-postaxial-acrofacial-dysostosis.md): A rare condition affecting the development of the face and limbs, with underdeveloped cheekbones and jaw and missing or differently formed fifth fingers and toes. It is caused by changes in both copies of the DHODH gene. - [Monogenic Early-Onset Osteoporosis](https://dantelabs.com/conditions/monogenic-early-onset-osteoporosis.md): Rare single-gene conditions that cause low bone density and fractures from childhood or early adulthood. They are different from common age-related osteoporosis, and this report does not estimate risk for the common form. - [Mulibrey Nanism](https://dantelabs.com/conditions/mulibrey-nanism-trim37.md): A rare growth disorder affecting muscle, liver, brain and eyes, with short stature from before birth and a risk of heart constriction. It is caused by changes in both copies of the TRIM37 gene. - [Multiple Synostoses Syndrome (FGF9)](https://dantelabs.com/conditions/multiple-synostoses-syndrome-fgf9.md): A rare skeletal condition in which some joints, such as at the elbows, wrists, ankles and fingers, are fused and cannot bend normally. This report covers the form caused by changes in one copy of the FGF9 gene. - [Myofibrillar Myopathies](https://dantelabs.com/conditions/myofibrillar-myopathies.md): Inherited muscle disorders that cause progressive weakness, often starting in adulthood, and that frequently also affect the heart muscle and heart rhythm. - [NADSYN1-Related Congenital NAD Deficiency (VCRL Syndrome 3)](https://dantelabs.com/conditions/vcrl-syndrome-3-nadsyn1.md): A rare inherited condition in which a shortage of the molecule NAD during development causes birth differences of the spine, heart, kidneys and limbs. It is caused by changes in both copies of the NADSYN1 gene. - [NOG-Related Symphalangism Spectrum Disorder](https://dantelabs.com/conditions/nog-related-symphalangism-spectrum-disorder.md): An inherited condition in which some joints of the fingers, toes, wrists, ankles or middle ear are fused, often causing stiff fingers and conductive hearing loss. It is caused by changes in one copy of the NOG gene. - [Nail-Patella Syndrome](https://dantelabs.com/conditions/nail-patella-syndrome.md): An inherited condition affecting the nails, kneecaps, elbows and pelvis, and in some people the kidneys and eyes, with features that vary even within a family. It is caused by changes in one copy of the LMX1B gene. - [Opsismodysplasia](https://dantelabs.com/conditions/opsismodysplasia-inppl1.md): A rare inherited skeletal dysplasia in which bone maturation is markedly delayed, causing very short stature with short limbs, hands and feet and distinctive facial features. It is caused by changes in both copies of the INPPL1 gene. - [Osteoarthritis](https://dantelabs.com/conditions/osteoarthritis.md): A noninflammatory degenerative joint disease occurring chiefly in older persons, characterized by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity. - [Osteogenesis Imperfecta](https://dantelabs.com/conditions/osteogenesis-imperfecta.md): Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Editor note: we follow ordo and place van der hoeve as exact synonym - [Osteopetrosis](https://dantelabs.com/conditions/osteopetrosis.md): Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. - [Otospondylomegaepiphyseal Dysplasia (OSMED)](https://dantelabs.com/conditions/otospondylomegaepiphyseal-dysplasia.md): A rare inherited skeletal condition causing severe hearing loss, short limbs with enlarged joints, spine changes and a characteristic face, usually without eye problems. It is caused by changes in the COL11A2 collagen gene. - [Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)](https://dantelabs.com/conditions/overgrowth-syndromes.md): Inherited conditions, usually arising new in a child, that cause tall stature or a large head together with learning difficulties and other features. - [Polyglucosan Body Myopathy 1 (RBCK1)](https://dantelabs.com/conditions/polyglucosan-body-myopathy-1-rbck1.md): A rare inherited muscle disease in which abnormal sugar deposits build up in muscle and heart, causing weakness and heart muscle disease, sometimes with immune problems. It is caused by changes in both copies of the RBCK1 gene. - [Polyglucosan Body Myopathy 2 (GYG1)](https://dantelabs.com/conditions/polyglucosan-body-myopathy-2-gyg1.md): An inherited muscle condition that causes progressive weakness, starting in adulthood, due to abnormal glycogen building up in muscle. It is caused by changes in both copies of the GYG1 gene. - [Progressive Pseudorheumatoid Dysplasia](https://dantelabs.com/conditions/progressive-pseudorheumatoid-dysplasia.md): A rare inherited joint and cartilage condition that begins in childhood with stiff, enlarged joints that can be mistaken for juvenile arthritis but without inflammation. It is caused by changes in both copies of the CCN6 gene. - [RNU4ATAC Spectrum Disorder](https://dantelabs.com/conditions/rnu4atac-spectrum-disorder.md): A group of rare inherited conditions affecting growth, bones and the brain, ranging from severe microcephalic osteodysplastic primordial dwarfism type 1 to milder Roifman and Lowry-Wood syndromes. It is caused by changes in both copies of RNU4ATAC. - [Raine Syndrome](https://dantelabs.com/conditions/raine-syndrome-fam20c.md): A rare bone condition in which bones become unusually dense, with distinctive facial features and brain calcifications; it is often life-limiting in infancy, though milder forms exist. It is caused by changes in the FAM20C gene. - [Rheumatoid Arthritis](https://dantelabs.com/conditions/rheumatoid-arthritis.md): A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor. - [Roberts Syndrome](https://dantelabs.com/conditions/roberts-syndrome-esco2.md): A rare inherited condition affecting growth and the development of the arms, legs and face, ranging from severe limb shortening to milder forms. It is caused by changes in both copies of the ESCO2 gene, which helps hold copied chromosomes together. - [SCN4A-Related Congenital Myopathy](https://dantelabs.com/conditions/scn4a-related-recessive-myopathy.md): A rare inherited muscle condition causing weakness and low muscle tone from before or at birth, sometimes with breathing difficulties. It is caused by changes in both copies of SCN4A, the gene for the main sodium channel in skeletal muscle. - [SF3B4-Related Acrofacial Dysostosis (Nager Syndrome)](https://dantelabs.com/conditions/sf3b4-related-acrofacial-dysostosis-nager.md): A rare condition affecting the development of the face and arms, with a small lower jaw and underdeveloped thumbs. It is caused by loss of one working copy of the SF3B4 gene and is a known cause of Nager syndrome. - [SHOX Deficiency (Leri-Weill and Langer Dysplasia)](https://dantelabs.com/conditions/shox-deficiency.md): Conditions caused by loss of the SHOX gene, one of the most common single-gene causes of short stature, often with shortened forearms and lower legs. - [SLC10A7-Related Skeletal Dysplasia With Amelogenesis Imperfecta](https://dantelabs.com/conditions/slc10a7-related-skeletal-dysplasia.md): A rare inherited condition combining short stature and skeletal changes, including curvature of the spine, with poorly formed tooth enamel. It is caused by changes in both copies of the SLC10A7 gene. - [SMAD6-Related Disorder](https://dantelabs.com/conditions/smad6-related-disorder.md): An inherited predisposition to early fusion of the skull bones (craniosynostosis) and to heart valve and aortic problems, which many carriers never develop. It is linked to changes in one copy of the SMAD6 gene. - [Saul-Wilson Syndrome](https://dantelabs.com/conditions/saul-wilson-syndrome.md): A rare skeletal condition causing marked short stature, distinctive facial features and, in some, early cataracts and hearing loss. It is caused by a specific new change in the COG4 gene. - [Schmid Metaphyseal Chondrodysplasia](https://dantelabs.com/conditions/schmid-metaphyseal-chondrodysplasia.md): An inherited skeletal condition causing short stature, bowed legs and a waddling walk, which becomes noticeable once a child starts walking. It is caused by a change in one copy of the COL10A1 gene. - [Schwartz-Jampel Syndrome Type 1](https://dantelabs.com/conditions/schwartz-jampel-syndrome-type-1-hspg2.md): A rare condition causing persistent muscle stiffness (myotonia), short stature, joint contractures and a characteristic fixed facial expression. It is caused by changes in both copies of the HSPG2 gene. - [Sclerosing Bone Dysplasias (High Bone Mass)](https://dantelabs.com/conditions/sclerosing-bone-dysplasias.md): Rare inherited conditions in which bone becomes abnormally dense or thick. Thickening of the skull can compress nerves, causing facial palsy or hearing loss. - [Short-Rib Thoracic Dysplasia 11 (DYNC2I2)](https://dantelabs.com/conditions/short-rib-thoracic-dysplasia-11-dync2i2.md): A skeletal condition present from birth, similar to Jeune syndrome, in which short ribs make the chest narrow and can restrict breathing. It is caused by changes in both copies of the DYNC2I2 gene, which is needed for cilia, tiny hair-like structures on cells. - [Short-Rib Thoracic Dysplasia 7 (WDR35)](https://dantelabs.com/conditions/short-rib-thoracic-dysplasia-7-wdr35.md): A rare skeletal ciliopathy causing short ribs and a narrow chest, short limbs and sometimes extra fingers or toes, which can affect breathing. It is caused by changes in both copies of the WDR35 gene. - [Short-Rib Thoracic Dysplasia 8 (DYNC2I1)](https://dantelabs.com/conditions/short-rib-thoracic-dysplasia-8-dync2i1.md): A skeletal ciliopathy causing short ribs and a narrow chest, short limbs and sometimes extra fingers or toes. It is caused by changes in both copies of the DYNC2I1 gene. - [Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type](https://dantelabs.com/conditions/smed-short-limb-abnormal-calcification-ddr2.md): A rare inherited skeletal dysplasia causing very short stature with short limbs and abnormal calcium deposits, along with abnormalities of the bones of the spine. It is caused by changes in both copies of DDR2, a receptor tyrosine kinase gene. - [Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 3](https://dantelabs.com/conditions/semd-joint-laxity-type-3-exoc6b.md): A rare inherited skeletal condition causing short stature, loose joints with dislocations and changes in the spine and the ends of long bones. It is caused by changes in both copies of the EXOC6B gene. - [Spondyloepimetaphyseal Dysplasia, Genevieve Type](https://dantelabs.com/conditions/spondyloepimetaphyseal-dysplasia-genevieve-nans.md): A rare condition combining a skeletal dysplasia with short stature and developmental delay. It is caused by changes in both copies of the NANS gene, which is needed to make sialic acid, a sugar found on many cell surfaces. - [Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations](https://dantelabs.com/conditions/spondyloepiphyseal-dysplasia-joint-dislocations-chst3.md): A rare inherited skeletal condition causing short stature, joints that are dislocated at birth and curvature of the spine. It is caused by changes in both copies of the CHST3 gene. - [Spondyloepiphyseal Dysplasia, Kondo-Fu Type](https://dantelabs.com/conditions/spondyloepiphyseal-dysplasia-kondo-fu-type.md): A very rare inherited skeletal condition causing short stature and changes in the spine and the growing ends of bones. It is caused by changes in both copies of the MBTPS1 gene, which encodes site-1 protease. - [Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy](https://dantelabs.com/conditions/spondylometaphyseal-dysplasia-cone-rod-dystrophy.md): A rare inherited condition combining a skeletal dysplasia affecting the spine and growing ends of the long bones with a retinal dystrophy affecting central and colour vision. It is caused by changes in both copies of the PCYT1A gene. - [Stüve-Wiedemann Syndrome](https://dantelabs.com/conditions/stuve-wiedemann-syndrome.md): A rare condition present from birth with bowed long bones, bent fingers and problems with automatic body functions such as temperature control, breathing and swallowing. It is caused by changes in both copies of the LIFR gene. - [Syndromic Craniosynostosis](https://dantelabs.com/conditions/syndromic-craniosynostosis.md): Inherited conditions in which one or more of the skull sutures close too early, together with other features such as differences of the face, hands or feet. - [TARP Syndrome](https://dantelabs.com/conditions/tarp-syndrome-rbm10.md): A rare condition in boys involving clubfoot, a hole in the heart, a small jaw with cleft palate, and an extra blood vessel near the heart. It is caused by changes in the RBM10 gene on the X chromosome. - [TOR1AIP1-Related Multisystem Disorder](https://dantelabs.com/conditions/tor1aip1-related-multisystem-disorder.md): A rare inherited condition affecting many body systems, with muscle weakness, heart problems, cataracts and hearing loss. It is caused by changes in both copies of the TOR1AIP1 gene, which helps maintain the cell nucleus. - [TOR1AIP1-Related Myopathy](https://dantelabs.com/conditions/tor1aip1-related-myopathy.md): A rare inherited muscle condition causing muscle weakness, joint contractures and, in some people, heart and breathing problems. It is caused by changes in both copies of the TOR1AIP1 gene, which makes a protein of the nuclear envelope. - [TRIP11-Related Skeletal Dysplasia](https://dantelabs.com/conditions/trip11-related-skeletal-dysplasia.md): A rare inherited skeletal condition ranging from achondrogenesis type 1A, which is lethal around birth, to odontochondrodysplasia, which causes short stature and fragile teeth. It is caused by changes in both copies of the TRIP11 gene. - [TRPV4-Related Skeletal Dysplasias](https://dantelabs.com/conditions/trpv4-related-skeletal-dysplasias.md): A spectrum of inherited skeletal conditions, from mild brachyolmia to severe metatropic dysplasia, affecting the spine and growth of the long bones. They are caused by changes in the TRPV4 gene, a calcium channel in cartilage. - [Tubular Aggregate Myopathy](https://dantelabs.com/conditions/tubular-aggregate-myopathy-stim1-orai1.md): A rare muscle condition causing weakness, cramps or muscle pain, named after the tube-like deposits seen in muscle under the microscope. It is caused by changes in one copy of the STIM1 or ORAI1 gene, which control calcium entry into cells. - [Ulnar-Mammary Syndrome](https://dantelabs.com/conditions/ulnar-mammary-syndrome.md): An inherited condition affecting the little-finger side of the hands and arms, the breasts and sweat glands, the teeth and genital development. It is caused by changes in one copy of the TBX3 gene. - [X-Linked Chondrodysplasia Punctata 1](https://dantelabs.com/conditions/x-linked-chondrodysplasia-punctata-1-arsl.md): An X-linked skeletal condition mainly affecting boys, causing a flat nose, short fingertips and stippled spots in growing bones seen on X-ray. It is caused by changes in the ARSL gene (formerly ARSE) on the X chromosome. - [ZIC1-Related Craniosynostosis](https://dantelabs.com/conditions/zic1-related-craniosynostosis.md): A rare condition in which the coronal sutures of the skull can fuse too early, changing head shape, often with learning difficulties. It is caused by a change in one copy of the ZIC1 gene, which helps control skull and brain development. - [ADCY5-Related Dyskinesia](https://dantelabs.com/conditions/adcy5-related-dyskinesia.md): A movement disorder starting in infancy or childhood with sudden, irregular movements of the limbs and face, often worse when falling asleep or waking. It is caused by changes in the ADCY5 gene. - [ARFGEF1-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/arfgef1-related-neurodevelopmental-disorder.md): A rare neurodevelopmental condition causing developmental delay, intellectual disability and behavioural differences, sometimes with seizures. It is caused by changes in one copy of the ARFGEF1 gene. - [ATP1A2-Related Fetal Akinesia with Polymicrogyria](https://dantelabs.com/conditions/farimpd-atp1a2.md): A very severe condition, also called FARIMPD, in which a baby moves little before birth, with a small head and abnormal brain folding. It is caused by changes in both copies of the ATP1A2 gene. - [Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)](https://dantelabs.com/conditions/adult-onset-leukodystrophies.md): Inherited white matter conditions that usually begin in adulthood. They include CSF1R-related leukoencephalopathy with axonal spheroids (ALSP), LMNB1-related autosomal dominant leukodystrophy and Nasu-Hakola disease (TYROBP and TREM2). - [Aicardi-Goutieres Syndrome](https://dantelabs.com/conditions/aicardi-goutieres-syndrome.md): A rare genetic inflammatory encephalopathy that causes severe neurological dysfunction, often mimicking congenital viral infections. - [Alacrima, Achalasia and Intellectual Disability Syndrome (GMPPA)](https://dantelabs.com/conditions/alacrima-achalasia-intellectual-disability-gmppa.md): A rare inherited condition causing absent tears from birth, difficulty swallowing because the lower oesophagus does not relax (achalasia), and intellectual disability. It is caused by changes in both copies of the GMPPA gene. - [Alexander Disease](https://dantelabs.com/conditions/alexander-disease.md): A leukodystrophy caused by changes in the GFAP gene, which affects astrocytes, the support cells of the brain. It can begin in infancy, childhood or adulthood, and most cases are due to a new change not inherited from a parent. - [Alkuraya-Kucinskas Syndrome](https://dantelabs.com/conditions/alkuraya-kucinskas-syndrome.md): A rare condition in which the brain does not develop fully before birth, often with stiff joints and clubfoot. It is caused by changes in both copies of the BLTP1 gene (previously called KIAA1109). - [Alzahrani-Kuwahara Syndrome](https://dantelabs.com/conditions/alzahrani-kuwahara-syndrome-smg8.md): A rare neurodevelopmental condition causing developmental delay and intellectual disability, with distinctive facial features and other differences. It is caused by changes in both copies of the SMG8 gene, which helps cells remove faulty messenger RNA. - [Alzheimer disease](https://dantelabs.com/conditions/alzheimer-disease.md): A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language - [Amyotrophic Lateral Sclerosis (ALS)](https://dantelabs.com/conditions/amyotrophic-lateral-sclerosis.md): A progressive neurodegenerative disease of the motor neurons, which causes muscle weakness, difficulty speaking and swallowing, and eventually breathing failure. About 10% of cases run in families, often linked to C9orf72, SOD1, TARDBP or FUS. - [Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)](https://dantelabs.com/conditions/als-susceptibility-24-nek1.md): An increased likelihood of developing amyotrophic lateral sclerosis (ALS), a condition in which the nerve cells controlling movement gradually stop working. It is linked to changes in one copy of the NEK1 gene, which raise risk but do not by themselves cause ALS. - [Angelman Syndrome](https://dantelabs.com/conditions/angelman-syndrome.md): A neurogenetic disorder causing severe developmental delay, minimal speech, problems with movement and balance, seizures and a characteristically happy demeanour. It results from loss of the maternally inherited UBE3A gene on chromosome 15. - [Asparagine Synthetase Deficiency](https://dantelabs.com/conditions/asparagine-synthetase-deficiency.md): A rare inherited neurological condition with a small head at birth, severe developmental delay, seizures and progressive loss of brain tissue. It is caused by changes in both copies of ASNS, the gene for the enzyme that makes the amino acid asparagine. - [Au-Kline Syndrome](https://dantelabs.com/conditions/au-kline-syndrome.md): A rare developmental syndrome causing intellectual disability, low muscle tone and distinctive facial features, often with heart, kidney or skeletal differences. It results from loss of one working copy of the HNRNPK gene. - [Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)](https://dantelabs.com/conditions/autosomal-dominant-cerebellar-ataxias.md): A group of inherited conditions, including the spinocerebellar ataxias (SCAs) and dentatorubral-pallidoluysian atrophy (DRPLA), in which the cerebellum gradually degenerates. They cause progressive unsteadiness, poor coordination and slurred speech, usually starting in adulthood. - [Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)](https://dantelabs.com/conditions/autosomal-recessive-cerebellar-ataxias.md): A group of inherited ataxias that occur when both copies of a gene carry a change. They include CANVAS (RFC1), ataxia with vitamin E deficiency (AVED), ARSACS, the ataxias with oculomotor apraxia and Friedreich ataxia, and cause progressive unsteadiness and poor coordination. - [Autosomal Recessive Primary Microcephaly](https://dantelabs.com/conditions/autosomal-recessive-primary-microcephaly.md): A group of inherited conditions in which the brain and head grow much smaller than usual before birth, usually with intellectual disability but otherwise few other health problems. This report covers the ASPM, CDK5RAP2, STIL, KIF14, WDR62, CEP152 and CPAP genes. - [BRAT1-Related Neurodevelopmental Disorder with Cerebellar Atrophy](https://dantelabs.com/conditions/brat1-neurodevelopmental-disorder-cerebellar-atrophy.md): A rare inherited neurodevelopmental disorder causing developmental delay and shrinkage of the cerebellum, sometimes with seizures. It is caused by changes in both copies of the BRAT1 gene. - [Basal Ganglia Calcification](https://dantelabs.com/conditions/basal-ganglia-calcification.md): The deposition of calcium salts within the basal ganglia region of the brain; it can be an age-related physiological finding or a manifestation of various underlying conditions such as metabolic, genetic, infectious, or vascular disorders, sometimes associated with neurological symptoms. - [Basilicata-Akhtar Syndrome](https://dantelabs.com/conditions/basilicata-akhtar-syndrome-msl3.md): A rare neurodevelopmental disorder causing developmental delay, intellectual disability, low muscle tone and feeding difficulties, with subtle facial features. It is caused by changes in the MSL3 gene on the X chromosome and affects both boys and girls. - [Beaulieu-Boycott-Innes Syndrome (THOC6)](https://dantelabs.com/conditions/beaulieu-boycott-innes-syndrome.md): A rare inherited developmental condition causing intellectual disability, a small head, distinctive facial features and sometimes heart or kidney differences. It is caused by changes in both copies of the THOC6 gene. - [Beck-Fahrner Syndrome](https://dantelabs.com/conditions/beck-fahrner-syndrome-tet3.md): A rare neurodevelopmental disorder causing developmental delay, intellectual disability and low muscle tone, often with autism and overgrowth features. It is caused by changes in the TET3 gene, which helps control DNA methylation. - [Brain Abnormalities, Neurodegeneration and Dysosteosclerosis (BANDDOS)](https://dantelabs.com/conditions/banddos-csf1r.md): A rare childhood condition combining brain malformations, loss of skills over time and abnormally dense bones. It is caused by changes in both copies of the CSF1R gene, which is needed by microglia, the brain's immune cells, and by other macrophage-type cells. - [Bryant-Li-Bhoj Neurodevelopmental Syndrome (H3-3A)](https://dantelabs.com/conditions/bryant-li-bhoj-syndrome-h3-3a.md): A rare neurodevelopmental disorder causing developmental delay, intellectual disability and low muscle tone, sometimes with seizures and craniofacial differences. It is caused by a change in one copy of H3-3A, a histone gene that helps package DNA. - [CDH2-Related ACOGS](https://dantelabs.com/conditions/acogs-cdh2-related.md): A rare developmental disorder, also called agenesis of the corpus callosum, cardiac, ocular and genital syndrome (ACOGS), that affects brain development, the heart, the eyes and the genitals. It is caused by a change in one copy of the CDH2 gene. - [CEBALID Syndrome (MN1)](https://dantelabs.com/conditions/cebalid-syndrome-mn1.md): A rare neurodevelopmental condition with distinctive facial and skull features, brain differences, hearing loss and speech delay. It is caused by specific changes near the end of the MN1 gene, usually arising new in the child. - [CLCN7-Related Hypopigmentation, Organomegaly and Delayed Myelination (HOD)](https://dantelabs.com/conditions/hod-syndrome-clcn7.md): A very rare condition causing light skin and hair, an enlarged liver and spleen, and delayed brain development. It is caused by a specific new change in the CLCN7 gene that makes a chloride channel in lysosomes overactive. - [COL4A1-Related Disorder](https://dantelabs.com/conditions/col4a1-related-disorder.md): A condition in which the walls of small blood vessels are weaker than usual, raising the risk of bleeding in the brain and affecting the eyes, kidneys and muscles. It is caused by changes in one copy of the COL4A1 gene. - [CTNNB1 Syndrome](https://dantelabs.com/conditions/ctnnb1-syndrome.md): A neurodevelopmental condition causing developmental delay, intellectual disability and leg stiffness, often with a small head size, and in some people changes in the blood vessels of the retina. It results from a change in one copy of the CTNNB1 gene. - [CYP7B1-Related Spastic Paraplegia and Liver Disease](https://dantelabs.com/conditions/cyp7b1-related-spastic-paraplegia-and-liver-disease.md): A rare inherited condition affecting CYP7B1, an enzyme that acts on cholesterol-derived molecules called oxysterols. It can cause slowly progressive leg stiffness and weakness (spastic paraplegia type 5) and, in some people, liver disease. It is caused by changes in both copies of CYP7B1. - [Canavan Disease](https://dantelabs.com/conditions/canavan-disease.md): An inherited leukodystrophy caused by changes in the ASPA gene, in which N-acetylaspartic acid builds up in the brain and the white matter becomes spongy. It usually begins in early infancy. - [Cerebral Amyloid Angiopathy](https://dantelabs.com/conditions/cerebral-amyloid-angiopathy.md): A disease characterized by amyloid-beta protein deposits in the brain's blood vessels, which increases the risk of hemorrhage and dementia. - [Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy](https://dantelabs.com/conditions/cerebral-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy.md): A condition characterized by disease of the arteries within the brain, leading to small areas of tissue death (infarcts) in the subcortical regions and diffuse damage to the brain's white matter (leukoencephalopathy). - [Cerebral Cavernous Malformation](https://dantelabs.com/conditions/cerebral-cavernous-malformation.md): A vascular malformation in the brain characterized by clusters of abnormally enlarged, thin-walled capillaries. - [Cerebrotendinous Xanthomatosis](https://dantelabs.com/conditions/cerebrotendinous-xanthomatosis.md): An inherited disorder of bile acid production caused by changes in the CYP27A1 gene. Cholestanol builds up in the brain, tendons and lenses, causing childhood diarrhoea and cataracts and later neurological problems, and it is treatable. - [Charcot-Marie-Tooth Disease](https://dantelabs.com/conditions/charcot-marie-tooth-disease-type-1.md): A group of inherited conditions that damage the peripheral nerves, causing slowly progressive weakness, muscle wasting and loss of sensation, mainly in the feet, lower legs and hands. It includes the demyelinating (type 1) and axonal (type 2) forms and distal hereditary motor neuropathies. - [Christianson Syndrome](https://dantelabs.com/conditions/christianson-syndrome.md): A rare X-linked neurodevelopmental condition, mostly affecting boys, that causes intellectual disability, very limited speech, epilepsy and problems with balance. It is caused by changes in the SLC9A6 gene on the X chromosome. - [Chung-Jansen Syndrome (PHIP)](https://dantelabs.com/conditions/chung-jansen-syndrome.md): A rare neurodevelopmental condition causing developmental delay or learning difficulties, behavioural differences and a tendency to put on weight, with characteristic facial features. It results from loss of one working copy of the PHIP gene. - [Coffin-Siris Syndrome](https://dantelabs.com/conditions/coffin-siris-syndrome.md): A rare neurodevelopmental disorder causing developmental delay and intellectual disability, with small or absent fifth fingernails and toenails and distinctive facial features. It is caused by changes in genes of the BAF complex, including ARID1B. - [Complex Cortical Dysplasia and Frontoparietal Polymicrogyria](https://dantelabs.com/conditions/complex-cortical-dysplasia-and-frontoparietal-polymicrogyria.md): A group of conditions in which the outer layer of the brain (the cortex) forms abnormally before birth, often causing developmental delay and seizures. This report covers the TUBB2B, KIF26A and ADGRG1 genes. - [Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)](https://dantelabs.com/conditions/complex-neurodevelopmental-disorder-trrap-myh10-rere-sox11.md): A group of rare conditions causing developmental delay and intellectual disability, often with birth differences of the brain, heart or other organs. This report analyses the TRRAP, MYH10, RERE and SOX11 genes, where new changes usually cause the condition. - [Complex Neurodevelopmental Disorder With Motor Features](https://dantelabs.com/conditions/complex-neurodevelopmental-disorder-motor-features.md): A group of rare genetic conditions that combine developmental delay or intellectual disability with movement problems such as dystonia, stiffness or poor coordination. This report covers KMT2B, ELP2, CACNA1B, ADD3, EMC1, PSMF1 and RAB11A. - [Congenital Myasthenic Syndrome](https://dantelabs.com/conditions/congenital-myasthenic-syndrome.md): A group of rare, inherited disorders characterized by impaired transmission of nerve signals to muscles, leading to muscle weakness and fatigue, typically manifesting at or shortly after birth. - [DCC-Related Mirror Movements and Agenesis of the Corpus Callosum](https://dantelabs.com/conditions/dcc-mirror-movements-corpus-callosum.md): An inherited condition in which movements of one hand are involuntarily copied by the other (mirror movements), and/or the band of nerve fibres joining the two halves of the brain is missing. It is caused by a change in one copy of DCC. - [DHX30-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/dhx30-related-neurodevelopmental-disorder.md): A neurodevelopmental condition causing developmental delay, intellectual disability and severe speech difficulties, and in many cases difficulty walking. It is caused by changes in one copy of the DHX30 gene. - [DIAPH1-Related Microcephaly, Seizures and Cortical Blindness](https://dantelabs.com/conditions/diaph1-microcephaly-seizures-cortical-blindness.md): A rare inherited condition with a small head size, seizures, visual impairment arising in the brain and developmental delay. It is caused by changes in both copies of the DIAPH1 gene. - [DLL1-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/dll1-related-neurodevelopmental-disorder.md): A rare neurodevelopmental disorder causing developmental delay, intellectual disability and autism, often with seizures and brain differences on MRI. It is caused by a change in one copy of the DLL1 gene. - [DNMT1-Related Ataxia, Deafness and Narcolepsy (ADCA-DN)](https://dantelabs.com/conditions/dnmt1-related-ataxia-deafness-and-narcolepsy.md): A rare inherited neurodegenerative condition caused by changes in the DNMT1 gene. It typically begins in adulthood with unsteadiness, hearing loss and narcolepsy with cataplexy, and can later lead to cognitive decline. - [DOORS Syndrome](https://dantelabs.com/conditions/doors-syndrome.md): A rare condition whose name stands for deafness, onychodystrophy (small or absent nails), osteodystrophy, intellectual disability and seizures. It is mainly caused by changes in both copies of TBC1D24; ATP6V1B2 has also been linked to it. - [DPH1-Related Developmental Delay with Short Stature](https://dantelabs.com/conditions/dph1-related-developmental-delay-short-stature.md): A rare condition causing developmental delay, short stature, distinctive facial features and sparse hair. It is caused by changes in both copies of the DPH1 gene, which helps make diphthamide, a modification of a protein-synthesis factor. - [DeSanto-Shinawi Syndrome](https://dantelabs.com/conditions/desanto-shinawi-syndrome.md): A rare neurodevelopmental disorder causing developmental delay, intellectual disability and behavioural differences, often with low muscle tone and subtle facial features. It results from loss of one working copy of the WAC gene. - [Dias-Logan Syndrome](https://dantelabs.com/conditions/dias-logan-syndrome.md): A rare neurodevelopmental disorder causing intellectual disability, often with autism, a small head and persistence of fetal haemoglobin in the blood. It results from loss of one working copy of the BCL11A gene. - [Dopamine Transporter Deficiency Syndrome](https://dantelabs.com/conditions/dopamine-transporter-deficiency-syndrome.md): A rare inherited movement disorder in which the brain cannot recycle the chemical messenger dopamine, causing parkinsonism and dystonia that usually begin in infancy. It is caused by changes in both copies of the SLC6A3 gene. - [Dravet Syndrome](https://dantelabs.com/conditions/dravet-syndrome.md): A severe form of epilepsy that begins in infancy, characterized by frequent, prolonged seizures often triggered by fever, and associated with developmental delays. - [Dystonia, Myotonia, Paroxysmal Dyskinesia](https://dantelabs.com/conditions/dystonia-myotonia-paroxysmal-dyskinesia.md): Neurological movement disorders encompassing sustained or intermittent muscle contractions (dystonia), delayed muscle relaxation (myotonia), and sudden, involuntary movement episodes (paroxysmal dyskinesia). - [EBF3-Related Neurodevelopmental Disorder (HADDS)](https://dantelabs.com/conditions/hadds-ebf3.md): A rare neurodevelopmental disorder, also called hypotonia, ataxia and delayed development syndrome (HADDS), causing low muscle tone, poor balance and developmental and speech delay. It results from a change in one copy of the EBF3 gene. - [EML1-Related Band Heterotopia](https://dantelabs.com/conditions/band-heterotopia-eml1.md): A rare brain malformation in which nerve cells collect in a large band beneath the brain surface instead of moving to the cortex, usually with seizures and intellectual disability. This form is caused by changes in both copies of the EML1 gene. - [Encephalopathy due to Mitochondrial and Peroxisomal Fission Defect](https://dantelabs.com/conditions/encephalopathy-mitochondrial-peroxisomal-fission-defect.md): A rare brain disorder in which mitochondria and peroxisomes, the cell's energy and processing compartments, cannot divide properly. It is caused by changes in the DNM1L or MFF genes and ranges from severe infantile illness to milder childhood forms. - [Epilepsy (Full Panel)](https://dantelabs.com/conditions/epilepsy-report.md): A broad panel of inherited epilepsies and seizure disorders, from common generalised and focal epilepsies to single-gene epilepsy syndromes and developmental and epileptic encephalopathies. - [FAT4-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/fat4-related-neurodevelopmental-disorder.md): A rare inherited condition affecting brain development, facial features and, in some people, the lymphatic system. It can cause Van Maldergem syndrome, and is caused by changes in both copies of the FAT4 gene. - [FDXR-Related Mitochondrial Disorder](https://dantelabs.com/conditions/fdxr-related-mitochondrial-disorder.md): A rare inherited mitochondrial condition that mainly damages the optic nerves and the hearing nerve pathway, causing vision and hearing loss, sometimes with wider nervous system problems. It is caused by changes in both copies of the FDXR gene. - [FOXP2-Related Speech and Language Disorder](https://dantelabs.com/conditions/foxp2-related-speech-and-language-disorder.md): An inherited speech condition in which children have difficulty planning and coordinating the movements needed for speech (childhood apraxia of speech), with language difficulties. It is caused by changes in one copy of FOXP2. - [Familial Hemiplegic Migraine](https://dantelabs.com/conditions/familial-hemiplegic-migraine.md): A rare, inherited form of migraine characterized by temporary episodes of weakness or paralysis on one side of the body, often accompanied by typical migraine symptoms like severe headache, nausea, and sensitivity to light and sound. - [Familial Periodic Paralysis](https://dantelabs.com/conditions/familial-periodic-paralysis.md): A hereditary disorder characterized by recurrent episodes of muscle weakness or paralysis. - [Fowler Syndrome](https://dantelabs.com/conditions/fowler-syndrome.md): A rare and severe inherited condition in which abnormal blood vessels form in the developing brain before birth, leading to fluid in place of brain tissue and fixed joints. It is caused by changes in both copies of the FLVCR2 gene. - [Fragile X Syndrome](https://dantelabs.com/conditions/fragile-x-syndrome.md): The most common inherited cause of intellectual disability, caused by an expanded CGG repeat in the FMR1 gene. It can also cause autism features and anxiety. Carriers of smaller expansions (premutations) are at risk of FXTAS and early menopause. - [Friedreich Ataxia](https://dantelabs.com/conditions/friedreich-ataxia.md): An inherited condition that damages the nerves and the cerebellum, causing progressive problems with balance, coordination and speech, often with heart involvement. It is the most common inherited ataxia and is caused by changes in both copies of the FXN gene. - [Frontotemporal Dementia](https://dantelabs.com/conditions/frontotemporal-dementia.md): A progressive neurodegenerative disorder affecting the frontal and temporal lobes of the brain, causing distinct changes in behavior, personality, and language. - [GEMIN5-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/gemin5-related-neurodevelopmental-disorder.md): A rare neurodevelopmental disorder causing developmental delay, low muscle tone, coordination problems and shrinkage of the cerebellum. It is caused by changes in both copies of the GEMIN5 gene. - [GRIA2-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/gria2-related-neurodevelopmental-disorder.md): A neurodevelopmental disorder causing intellectual disability and language impairment, often with autism or behavioural differences and sometimes seizures. It is caused by new changes in the GRIA2 gene, part of a receptor for the brain chemical glutamate. - [GTP Cyclohydrolase 1 Deficiency](https://dantelabs.com/conditions/gch1-gtp-cyclohydrolase-1-deficiency.md): An inherited condition in which the brain makes too little of the chemical messenger dopamine. One changed copy of the GCH1 gene typically causes dopa-responsive dystonia; two changed copies cause a more severe infant-onset form. - [Genetic Prion Disease (incl. Fatal Familial Insomnia)](https://dantelabs.com/conditions/genetic-prion-disease.md): A group of rare inherited brain diseases caused by changes in the PRNP gene, including genetic Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. They usually begin in mid to late adulthood and progress rapidly; there is currently no disease-modifying treatment. - [HPCA-Related Dystonia](https://dantelabs.com/conditions/hpca-related-dystonia.md): A rare inherited movement disorder in which involuntary muscle contractions cause twisting movements and abnormal postures, with onset from infancy to early adulthood. It is caused by changes in both copies of the HPCA gene, which is involved in calcium handling in cells. - [Hao-Fountain Syndrome](https://dantelabs.com/conditions/hao-fountain-syndrome.md): A rare neurodevelopmental disorder causing developmental delay, speech delay and intellectual disability, often with autism and behavioural differences. It is caused by a change or deletion affecting one copy of the USP7 gene. - [Hereditary Episodic Ataxias](https://dantelabs.com/conditions/hereditary-episodic-ataxias.md): Inherited conditions causing recurrent attacks of unsteadiness and poor coordination, lasting from minutes to hours, often triggered by stress, exercise or sudden movement. Between attacks people may be well or have mild symptoms. - [Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)](https://dantelabs.com/conditions/hereditary-neuropathy-with-liability-to-pressure-palsies.md): An inherited nerve condition in which nerves are unusually sensitive to pressure, causing repeated episodes of numbness, tingling or weakness after leaning on or stretching a nerve. It is usually caused by a deletion of the PMP22 gene. - [Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)](https://dantelabs.com/conditions/hereditary-sensory-and-autonomic-neuropathies.md): A group of inherited nerve conditions that reduce the ability to feel pain, temperature and touch and can affect automatic body functions such as blood pressure, sweating and digestion. The group includes familial dysautonomia (Riley-Day syndrome) and congenital insensitivity to pain. - [Hereditary Spastic Paraplegia](https://dantelabs.com/conditions/hereditary-spastic-paraplegia.md): A group of inherited neurological disorders characterized by progressive spasticity and weakness, predominantly affecting the lower limbs, due to degeneration of the longest axons in the spinal cord. - [Huntington Disease](https://dantelabs.com/conditions/huntington-disease.md): An inherited neurodegenerative disorder caused by an expanded CAG repeat in the HTT gene. It causes progressive problems with movement (chorea), thinking and mood, usually starting in mid-adulthood. - [Hyperekplexia 3 (SLC6A5)](https://dantelabs.com/conditions/hyperekplexia-3-slc6a5.md): An inherited condition present from birth with stiffness and an exaggerated startle response to sudden noise or touch. It is caused by changes in the SLC6A5 gene, which recycles the nerve signal glycine. - [Inherited Neurodegenerative Disorders](https://dantelabs.com/conditions/inherited-neurodegenerative-disorders-selected-genes.md): A group of rare inherited conditions in which parts of the nervous system develop abnormally or lose function over time. This report covers disorders caused by KIF5A, UNC80, AGTPBP1, TBCD, TBCE, QARS1, SLC30A9, ALS2 and TUBB4A. - [Intracranial Berry Aneurysm](https://dantelabs.com/conditions/intracranial-berry-aneurysm.md): An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. - [JARID2-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/jarid2-related-neurodevelopmental-disorder.md): A rare neurodevelopmental condition causing developmental delay and variable intellectual disability, often with behavioural differences and subtle facial features. It results from loss of one working copy of the JARID2 gene. - [Jaberi-Elahi Syndrome](https://dantelabs.com/conditions/jaberi-elahi-syndrome.md): A rare inherited neurodevelopmental disorder causing intellectual disability, movement problems and visual problems. It is caused by changes in both copies of the GTPBP2 gene. - [Joubert Syndrome And Related Disorders](https://dantelabs.com/conditions/joubert-syndrome-and-related-disorders.md): A rare genetic neurological disorder characterized by a specific brain malformation (molar tooth sign), developmental delays, and ataxia, encompassing a spectrum of related ciliopathies. - [KAT6B-Related Disorders](https://dantelabs.com/conditions/kat6b-related-disorders.md): A spectrum of rare developmental conditions, including Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome, causing intellectual disability and birth differences. They are caused by new changes in the KAT6B gene, which regulates gene activity. - [KCNH1-Related Disorder](https://dantelabs.com/conditions/kcnh1-related-disorder.md): A rare neurodevelopmental disorder, including Temple-Baraitser and Zimmermann-Laband syndromes, causing intellectual disability, seizures and differences of the thumbs, big toes and nails. It is caused by changes in the KCNH1 potassium channel gene. - [KCNQ2-Related Neonatal Encephalopathy with Non-Epileptic Myoclonus](https://dantelabs.com/conditions/kcnq2-neonatal-encephalopathy-non-epileptic-myoclonus.md): A rare, severe brain disorder starting at birth, with startle-like jerks that are not seizures, breathing problems and severe developmental delay. It is caused by specific changes in one copy of the KCNQ2 gene that make a potassium channel overactive. - [KDM1A-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/kdm1a-related-neurodevelopmental-disorder.md): A rare neurodevelopmental disorder causing developmental delay, cleft palate in some people and distinctive facial features. It is caused by changes in one copy of the KDM1A gene. - [KIDINS220-Related Ventriculomegaly and Arthrogryposis](https://dantelabs.com/conditions/kidins220-ventriculomegaly-arthrogryposis.md): A severe condition, usually detected before birth, in which the fluid spaces of the brain are enlarged and the joints are fixed in bent positions. It is caused by changes in both copies of the KIDINS220 gene, which is involved in neuronal signalling. - [KIF5A-Related Amyotrophic Lateral Sclerosis](https://dantelabs.com/conditions/kif5a-related-amyotrophic-lateral-sclerosis.md): An inherited form of amyotrophic lateral sclerosis (ALS), a condition in which the nerve cells controlling muscles gradually stop working. It is linked to specific changes in the KIF5A gene, which helps transport materials along nerve fibres. - [Kaufman Oculocerebrofacial Syndrome](https://dantelabs.com/conditions/kaufman-oculocerebrofacial-syndrome.md): A rare neurodevelopmental disorder causing intellectual disability, a small head size and characteristic eye and facial features such as narrow, droopy eyelids. It is caused by changes in both copies of the UBE3B gene. - [Kaya-Barakat-Masson Syndrome](https://dantelabs.com/conditions/kaya-barakat-masson-syndrome.md): A rare neurodevelopmental disorder causing severe developmental delay, a small head, muscle stiffness and seizures. It is caused by changes in both copies of the YIF1B gene. - [Kohlschütter-Tönz Syndrome](https://dantelabs.com/conditions/kohlschutter-tonz-syndrome-rogdi.md): A rare inherited condition combining epilepsy that starts in early childhood, developmental delay and abnormal tooth enamel. It is caused by changes in both copies of the ROGDI gene. - [Krabbe Disease](https://dantelabs.com/conditions/krabbe-disease.md): An inherited lysosomal condition caused by changes in the GALC gene that damages the myelin of the brain and nerves. Most cases start in infancy, but later onset forms also occur. - [L1 Syndrome](https://dantelabs.com/conditions/l1-syndrome-l1cam.md): An X-linked condition mainly affecting boys, causing a range of brain development differences including hydrocephalus, intellectual disability, stiff legs and inward-bent thumbs. It is caused by changes in the L1CAM gene, which helps nerve cells connect. - [Lamb-Shaffer Syndrome](https://dantelabs.com/conditions/lamb-shaffer-syndrome.md): A rare neurodevelopmental disorder causing developmental and speech delay and intellectual disability, often with behavioural differences, eye problems and subtle facial features. It results from loss of one working copy of the SOX5 gene on chromosome 12. - [Leigh Syndrome](https://dantelabs.com/conditions/leigh-syndrome.md): A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. - [Lessel-Kreienkamp Syndrome](https://dantelabs.com/conditions/lessel-kreienkamp-syndrome.md): A rare neurodevelopmental condition causing developmental and speech delay, intellectual disability and low muscle tone, often with behavioural differences. It is caused by changes in one copy of the AGO2 gene. - [Lissencephaly Spectrum Disorders](https://dantelabs.com/conditions/lissencephaly-spectrum-disorders.md): A group of conditions in which the brain's surface does not develop its usual folds, causing developmental delay, intellectual disability and seizures. This report covers several genes, including DCX, TUBG1, ACTB, ACTG1, CEP85L and RELN. - [MAPK8IP3-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/mapk8ip3-related-neurodevelopmental-disorder.md): A rare neurodevelopmental condition causing developmental delay and intellectual disability, sometimes with differences on brain imaging. It is caused by changes in one copy of the MAPK8IP3 gene, which helps transport cargo along nerve fibres. - [MCM3AP-Related Peripheral Neuropathy](https://dantelabs.com/conditions/mcm3ap-related-peripheral-neuropathy.md): A rare inherited nerve condition causing weakness and wasting of the hands and feet from childhood, sometimes with intellectual disability. It is caused by changes in both copies of MCM3AP, a gene involved in moving messenger RNA out of the cell nucleus. - [MCPH1-Related Primary Microcephaly](https://dantelabs.com/conditions/mcph1-related-primary-microcephaly.md): A rare inherited condition in which the head and brain are small from birth, with mild to moderate intellectual disability. It is caused by changes in both copies of the MCPH1 gene. - [MED27-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/med27-related-neurodevelopmental-disorder.md): A rare inherited neurodevelopmental disorder causing intellectual disability, stiffness, cataracts and underdevelopment of the cerebellum. It is caused by changes in both copies of the MED27 gene, part of the Mediator complex that controls gene activity. - [MTOR Pathway Megalencephaly and Overgrowth Disorders](https://dantelabs.com/conditions/mtor-pathway-megalencephaly-overgrowth.md): A group of conditions in which overactivity of a cell growth pathway causes a large brain, brain malformations and sometimes body overgrowth. This report analyses the AKT3, MTOR, PIK3CA, PIK3R2 and CCND2 genes. - [Meckel Syndrome](https://dantelabs.com/conditions/meckel-syndrome.md): A rare, lethal, autosomal recessive genetic disorder characterized by a triad of encephalocele, polycystic kidneys, and polydactyly. - [Megalencephalic Leukoencephalopathy with Subcortical Cysts](https://dantelabs.com/conditions/megalencephalic-leukoencephalopathy-with-subcortical-cysts.md): An inherited leukodystrophy (MLC) in which children have an enlarged head in the first year of life, with swollen white matter and fluid-filled cysts on brain imaging. It is caused by changes in MLC1, HEPACAM or GPRC5B. - [Metachromatic Leukodystrophy](https://dantelabs.com/conditions/metachromatic-leukodystrophy.md): An inherited lysosomal condition in which sulfatides build up and damage myelin in the brain and nerves. It is usually caused by changes in ARSA, and more rarely by saposin B deficiency due to changes in PSAP. - [Microcephaly and Chorioretinopathy 1 (TUBGCP6)](https://dantelabs.com/conditions/microcephaly-chorioretinopathy-1-tubgcp6.md): A rare condition combining a small head size with changes in the retina and the layer beneath it, often with developmental delay and short stature. It is caused by changes in both copies of the TUBGCP6 gene. - [Mitchell Syndrome](https://dantelabs.com/conditions/mitchell-syndrome-acox1.md): A rare neurological condition causing episodes of weakness from nerve damage, along with hearing loss, starting in childhood. It is caused by a specific change in the ACOX1 gene that makes its enzyme overactive. - [Mowat-Wilson Syndrome](https://dantelabs.com/conditions/mowat-wilson-syndrome.md): A rare genetic disorder characterized by intellectual disability, Hirschsprung disease, distinctive facial features, and a range of congenital anomalies including heart defects, urogenital defects, and agenesis of the corpus callosum. - [Multiple Sclerosis](https://dantelabs.com/conditions/multiple-sclerosis.md): A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers. - [Myotonic Dystrophy](https://dantelabs.com/conditions/myotonic-dystrophy.md): An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies. - [NDE1-Related Microlissencephaly](https://dantelabs.com/conditions/microlissencephaly-nde1.md): A rare, severe inherited brain malformation with a very small head and a smooth or underdeveloped brain surface. It is caused by changes in both copies of the NDE1 gene. - [NFIA-Related Brain Malformations](https://dantelabs.com/conditions/nfia-related-brain-malformations.md): A rare condition in which the brain develops differently, often with an underdeveloped corpus callosum and a large head, sometimes with urinary tract differences and learning difficulties. It is caused by loss of one working copy of the NFIA gene. - [NRROS-Related Early-Onset Seizures with Neurodegeneration](https://dantelabs.com/conditions/nrros-related-seizures-neurodegeneration-calcifications.md): A rare and severe brain disorder beginning in infancy, with seizures, loss of skills and calcium deposits in the brain. It is caused by changes in both copies of the NRROS gene, which regulates the brain's immune cells (microglia). - [Neuroacanthocytosis and Huntington Disease Phenocopies](https://dantelabs.com/conditions/neuroacanthocytosis-and-huntington-disease-phenocopies.md): Rare inherited conditions that can resemble Huntington disease, causing involuntary movements (chorea), behavioural and psychiatric changes and cognitive decline. They include chorea-acanthocytosis, McLeod syndrome and Huntington disease-like 2. - [Neurodegeneration with Brain Iron Accumulation (NBIA)](https://dantelabs.com/conditions/neurodegeneration-with-brain-iron-accumulation.md): A group of inherited disorders in which iron builds up in deep brain structures, causing progressive movement problems such as dystonia and parkinsonism, often with cognitive or psychiatric changes. Onset ranges from childhood to adulthood. - [Neurofibromatosis](https://dantelabs.com/conditions/neurofibromatosis.md): A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. - [Neuronal Ceroid Lipofuscinosis](https://dantelabs.com/conditions/neuronal-ceroid-lipofuscinosis.md): A group of inherited neurodegenerative lysosomal storage disorders characterized by the accumulation of ceroid lipofuscin in neurons and other cells, leading to progressive neurological impairment. - [Neurooculocardiogenitourinary Syndrome (WDR37)](https://dantelabs.com/conditions/neurooculocardiogenitourinary-syndrome-wdr37.md): A rare multisystem condition causing intellectual disability and seizures, with eye differences such as coloboma, heart defects and kidney differences. It is caused by a new change in one copy of the WDR37 gene. - [Nizon-Isidor Syndrome](https://dantelabs.com/conditions/nizon-isidor-syndrome-med12l.md): A rare neurodevelopmental condition causing developmental delay, intellectual disability and speech difficulties, sometimes with autism or other behavioural differences. It is caused by a change in one copy of MED12L. - [Orofaciodigital Syndrome Type 14](https://dantelabs.com/conditions/orofaciodigital-syndrome-14-c2cd3.md): A rare ciliopathy affecting the mouth, face, fingers and toes, and sometimes the brain. It is caused by changes in both copies of the C2CD3 gene. - [Other Inherited Leukodystrophies](https://dantelabs.com/conditions/leukodystrophy.md): Inherited conditions that affect the white matter (myelin) of the brain and spinal cord and are not covered by a dedicated report, such as Sjogren-Larsson syndrome and rare mitochondrial and other leukoencephalopathies. X-linked adrenoleukodystrophy, Krabbe disease, metachromatic leukodystrophy, Canavan disease, Alexander disease, Pelizaeus-Merzbacher and hypomyelinating leukodystrophies, vanishing white matter disease, MLC, adult-onset leukodystrophies, Zellweger spectrum disorders, cerebrotendinous xanthomatosis, Aicardi-Goutieres syndrome and CADASIL have their own reports. - [PIP5K1C-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/pip5k1c-related-neurodevelopmental-disorder.md): A rare neurodevelopmental disorder causing developmental delay and intellectual disability, sometimes with seizures and other neurological features. It is caused by changes in one copy of the PIP5K1C gene. - [PNPLA6-Related Ataxia, Retinal Dystrophy and Hypogonadism](https://dantelabs.com/conditions/pnpla6-related-ataxia-retinal-dystrophy-hypogonadism.md): A group of rare conditions affecting balance, vision and the hormones that control puberty and growth, including Boucher-Neuhäuser and Oliver-McFarlane syndromes. They are caused by changes in both copies of the PNPLA6 gene. - [POLR1C-Related Disorder](https://dantelabs.com/conditions/polr1c-related-disorder.md): A rare inherited condition that can cause either Treacher Collins syndrome, which affects the development of the face, or a hypomyelinating leukodystrophy affecting the brain's white matter. It is caused by changes in both copies of the POLR1C gene. - [POLR2A-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/polr2a-related-neurodevelopmental-disorder.md): A rare neurodevelopmental condition usually beginning in infancy with low muscle tone and developmental delay, with variable severity. It is caused by a change in one copy of POLR2A. - [POLR3A-Related Disorder](https://dantelabs.com/conditions/polr3a-related-disorder.md): An inherited condition with a wide range of effects, from leukodystrophy with movement, tooth and puberty problems, to adult-onset stiffness and unsteadiness, and a progeroid syndrome reported in some babies, which needs confirmation. It is caused by changes in both copies of POLR3A. - [POLR3B-Related Disorder](https://dantelabs.com/conditions/polr3b-related-disorder.md): A group of rare conditions affecting the nervous system, including a childhood leukodystrophy with dental and hormone problems. They are caused by changes in the POLR3B gene. - [PPP1R21-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/ppp1r21-related-neurodevelopmental-disorder.md): A rare inherited neurodevelopmental disorder causing low muscle tone, developmental delay, distinctive facial features and changes in brain structure. It is caused by changes in both copies of the PPP1R21 gene. - [PRR12-Related Neuroocular Syndrome](https://dantelabs.com/conditions/prr12-related-neuroocular-syndrome.md): A rare condition combining developmental delay or intellectual disability with eye differences such as small or malformed eyes. It is caused by changes in one copy of the PRR12 gene, usually arising new in the child. - [Parkinson Disease](https://dantelabs.com/conditions/parkinson-disease.md): A progressive neurodegenerative disorder affecting the central nervous system, characterized by motor symptoms such as tremor, rigidity, bradykinesia, and postural instability. - [Pelizaeus-Merzbacher Disease & Hypomyelinating Leukodystrophies](https://dantelabs.com/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies.md): Inherited conditions in which the brain does not build normal myelin from early life. They include PLP1-related Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease (GJC2), POLR3-related (4H) leukodystrophy, TUBB4A-related H-ABC and other numbered hypomyelinating leukodystrophies. - [Periventricular Nodular Heterotopia](https://dantelabs.com/conditions/periventricular-nodular-heterotopia-flna-nedd4l-arfgef2.md): A brain malformation in which some nerve cells fail to move to the brain's surface and form nodules along the fluid spaces, often causing seizures. This report covers FLNA, ARF1, MAP1B, NEDD4L and ARFGEF2. - [Poirier-Bienvenu Neurodevelopmental Syndrome](https://dantelabs.com/conditions/poirier-bienvenu-neurodevelopmental-syndrome.md): A neurodevelopmental condition causing epilepsy that usually begins in infancy, along with developmental delay and variable intellectual disability. It is caused by changes in one copy of the CSNK2B gene. - [Pontocerebellar Hypoplasia (TSEN54 and MINPP1)](https://dantelabs.com/conditions/pontocerebellar-hypoplasia-tsen54-minpp1.md): A group of rare inherited conditions in which the cerebellum and pons, parts of the brain controlling movement, do not develop or are lost early in life. This report covers TSEN54, a common cause, and MINPP1. - [Primary Microcephaly 26 (LMNB1)](https://dantelabs.com/conditions/microcephaly-26-lmnb1.md): A rare condition in which the head and brain are smaller than expected from before birth, usually with intellectual disability. It is caused by a new change in one copy of the LMNB1 gene, which supports the structure of the cell nucleus. - [Primrose Syndrome](https://dantelabs.com/conditions/primrose-syndrome-zbtb20.md): A rare condition causing a large head, developmental delay and intellectual disability, with hardening of the outer ear cartilage and other features that change with age. It is caused by a change in one copy of ZBTB20. - [RTTN-Related Microcephalic Primordial Dwarfism](https://dantelabs.com/conditions/rttn-related-microcephalic-primordial-dwarfism.md): A rare inherited condition causing a very small head and body size from before birth, with intellectual disability and differences in brain folding. It is caused by changes in both copies of the RTTN gene. - [Radio-Tartaglia Syndrome](https://dantelabs.com/conditions/radio-tartaglia-syndrome.md): A neurodevelopmental condition causing developmental delay, intellectual disability and low muscle tone. It results from loss of one working copy of the SPEN gene. - [Rare Hereditary Peripheral Neuropathies](https://dantelabs.com/conditions/rare-hereditary-peripheral-neuropathies.md): A group of inherited conditions that damage the peripheral nerves, causing weakness, wasting and numbness in the hands and feet, sometimes with hearing, vision or balance problems. This report covers GAN, ABHD12, PRPS1, SLC25A46, IGHMBP2, PLEKHG5, SARS1 and SCN9A. - [Rett Syndrome and MECP2-Related Disorders](https://dantelabs.com/conditions/rett-syndrome.md): Rett syndrome is a neurodevelopmental disorder, mainly affecting girls, in which early development seems normal and is followed by loss of speech and purposeful hand use. Changes in the same gene, MECP2, cause related disorders, including MECP2 duplication syndrome and severe neonatal encephalopathy in boys. - [Riboflavin Transporter Deficiency](https://dantelabs.com/conditions/riboflavin-transporter-deficiency.md): A rare inherited condition, also called Brown-Vialetto-Van Laere syndrome, in which the body cannot transport riboflavin (vitamin B2) properly. It causes hearing loss, weakness of the muscles for speech, swallowing and breathing, and nerve damage, and can improve with early high-dose riboflavin. - [SMARCC1-Associated Developmental Dysgenesis Syndrome](https://dantelabs.com/conditions/smarcc1-associated-developmental-dysgenesis.md): A rare developmental condition linked to congenital hydrocephalus and other brain and body differences. It is caused by changes in one copy of the SMARCC1 gene, a regulator of how DNA is packaged. - [SPOP-Related Neurodevelopmental Disorder with Macrocephaly](https://dantelabs.com/conditions/spop-related-neurodevelopmental-disorder-macrocephaly.md): A rare neurodevelopmental condition causing developmental delay and intellectual disability with a relatively large head, sometimes with heart or hormone differences. It is caused by a change in one copy of SPOP, part of a protein-recycling system. - [SPTBN1-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/sptbn1-related-neurodevelopmental-disorder.md): A rare neurodevelopmental disorder causing developmental and speech delay, intellectual disability and behavioural differences. It is caused by changes in one copy of the SPTBN1 gene, which builds part of the scaffold that supports nerve cells. - [SPTBN4-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/sptbn4-related-neurodevelopmental-disorder.md): A rare inherited condition causing severe low muscle tone, developmental delay, damage to the peripheral nerves and hearing problems from infancy. It is caused by changes in both copies of the SPTBN4 gene. - [SYNCRIP-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/syncrip-related-neurodevelopmental-disorder.md): A rare neurodevelopmental disorder causing developmental delay and intellectual disability, often with autism and sometimes seizures. It is caused by a change in one copy of the SYNCRIP gene, which encodes an RNA-binding protein. - [Sandestig-Stefanova Syndrome](https://dantelabs.com/conditions/sandestig-stefanova-syndrome.md): A rare and severe inherited developmental condition that affects the brain, eyes and heart. It is caused by changes in both copies of the NUP188 gene, which helps build the pores that connect the cell nucleus to the rest of the cell. - [Siddiqi Syndrome](https://dantelabs.com/conditions/siddiqi-syndrome-fitm2.md): A very rare inherited condition causing progressive hearing loss, movement problems (dystonia) with loss of motor skills, and dry, scaly skin resembling ichthyosis. Only a few families have been reported. It is caused by changes in both copies of the FITM2 gene. - [Skraban-Deardorff Syndrome](https://dantelabs.com/conditions/skraban-deardorff-syndrome.md): A neurodevelopmental condition causing developmental delay, intellectual disability, seizures and an unsteady walk, often with a cheerful demeanour. It is caused by changes in one copy of the WDR26 gene. - [Snijders Blok-Campeau Syndrome](https://dantelabs.com/conditions/snijders-blok-campeau-syndrome.md): A rare neurodevelopmental disorder causing developmental and speech delay and intellectual disability, often with a large head and distinctive facial features. It is caused by a change in one copy of the CHD3 gene. - [Spinal Muscular Atrophy](https://dantelabs.com/conditions/spinal-muscular-atrophy.md): Inherited conditions in which the motor neurons of the spinal cord are lost, causing muscle weakness and wasting. The most common form is caused by variants in SMN1, and its severity ranges from infancy (type 1) to adulthood (type 4). - [Spinal and Bulbar Muscular Atrophy (Kennedy Disease)](https://dantelabs.com/conditions/spinal-and-bulbar-muscular-atrophy.md): An adult-onset X-linked condition in which motor nerve cells slowly degenerate, causing muscle weakness, cramps and difficulty with speech and swallowing. Men are affected, often with hormonal features such as breast enlargement; women can be carriers. - [Stankiewicz-Isidor Syndrome](https://dantelabs.com/conditions/stankiewicz-isidor-syndrome.md): A rare neurodevelopmental disorder causing developmental delay and intellectual disability, often with behavioural differences and birth differences of other organs. It results from loss of one working copy of the PSMD12 gene, part of the proteasome. - [Syndromic Complex Neurodevelopmental Disorder](https://dantelabs.com/conditions/syndromic-complex-neurodevelopmental-disorder.md): A group of rare genetic conditions causing developmental delay and intellectual disability together with features affecting other parts of the body. Each is caused by a change in one of many genes, including ANKRD17, AFG2A, ASH1L and MYT1L. - [TANC2-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/tanc2-related-neurodevelopmental-disorder.md): A neurodevelopmental disorder causing developmental and language delay and intellectual disability, often with autism and sometimes seizures. It results from loss of one working copy of the TANC2 gene, which helps organise connections between nerve cells. - [TCF20-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/tcf20-related-neurodevelopmental-disorder.md): A neurodevelopmental condition causing developmental delay and variable intellectual disability, often with autism, behavioural differences and low muscle tone. It results from loss of one working copy of the TCF20 gene. - [TMEM94-Related Intellectual Disability with Heart Defects](https://dantelabs.com/conditions/tmem94-intellectual-disability-heart-defects.md): A rare developmental disorder causing developmental delay, intellectual disability, heart defects present at birth and distinctive facial features. It is caused by changes in both copies of the TMEM94 gene. - [TNR-Related Neurodevelopmental Disorder with Spasticity](https://dantelabs.com/conditions/tnr-related-neurodevelopmental-disorder-spasticity.md): A rare non-progressive condition of early childhood causing developmental delay, stiffness of the legs and, in infancy, episodes of backward arching of the body. It is caused by changes in both copies of the TNR gene. - [TRAPPC4-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/trappc4-related-neurodevelopmental-disorder.md): A rare and severe neurodevelopmental condition causing developmental delay, epilepsy, stiff muscles and progressive loss of brain tissue. It is caused by changes in both copies of the TRAPPC4 gene, which helps move proteins within cells. - [TRAPPC6B-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/trappc6b-neurodevelopmental-disorder.md): A rare neurodevelopmental disorder causing a small head size, epilepsy, intellectual disability and reduced brain volume on scans. It is caused by changes in both copies of the TRAPPC6B gene. - [TRAPPC9-Related Intellectual Disability](https://dantelabs.com/conditions/trappc9-related-intellectual-disability.md): A rare neurodevelopmental disorder causing intellectual disability, a small head size and often obesity. It is caused by changes in both copies of the TRAPPC9 gene. - [TRIM8-Related Neurodevelopmental and Kidney Disorder](https://dantelabs.com/conditions/trim8-related-neurodevelopmental-kidney-disorder.md): A rare condition combining epilepsy, developmental delay and intellectual disability with a kidney disease that causes protein to leak into the urine (focal segmental glomerulosclerosis). It is caused by a change in one copy of the TRIM8 gene. - [Tuberous Sclerosis](https://dantelabs.com/conditions/tuberous-sclerosis.md): Hereditary disease characterized by seizures, intellectual disability, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. - [Tubulinopathies](https://dantelabs.com/conditions/tubulinopathies-tuba1a-tubb2a-tubb3.md): A group of conditions in which the brain develops differently, causing developmental delay, intellectual disability and seizures of varying severity. They are caused by changes in tubulin genes, including TUBA1A, TUBB2A and TUBB3, which build the cell's internal scaffolding. - [Turnpenny-Fry Syndrome](https://dantelabs.com/conditions/turnpenny-fry-syndrome.md): A rare neurodevelopmental disorder causing developmental delay, intellectual disability and distinctive facial features. It is caused by changes in one copy of the PCGF2 gene, which helps control when genes are switched off. - [UBTF-Related Neuroregression](https://dantelabs.com/conditions/ubtf-related-neuroregression.md): A rare condition in which a child who has developed typically begins to lose movement and thinking skills, often with abnormal movements. It is caused by a recurring new change in the UBTF gene. - [UNC13A-Related Neurodevelopmental Disorders](https://dantelabs.com/conditions/unc13a-related-neurodevelopmental-disorder.md): Rare neurodevelopmental conditions caused by changes in the UNC13A gene, which helps nerve cells release chemical signals. A change in one copy can cause developmental delay with movement problems; changes in both copies cause a more severe form with low muscle tone and epilepsy. - [VARS1-Related Neurodevelopmental Disorder](https://dantelabs.com/conditions/vars1-related-neurodevelopmental-disorder.md): A rare, serious neurodevelopmental disorder causing a small head size, seizures and developmental delay or intellectual disability. It is caused by changes in both copies of the VARS1 gene, which is needed to make proteins. - [VPS11-Related Leukodystrophy](https://dantelabs.com/conditions/vps11-related-leukodystrophy.md): A rare inherited brain condition in which the insulating myelin of nerve fibres does not form properly, causing developmental delay from infancy. It is caused by changes in both copies of VPS11, and is more common in people of Ashkenazi Jewish ancestry. - [Vanishing White Matter Disease](https://dantelabs.com/conditions/vanishing-white-matter-disease.md): An inherited leukodystrophy caused by changes in any of the five EIF2B genes, in which the white matter of the brain gradually breaks down. Episodes of rapid worsening are often triggered by fever, infection or minor head injury. - [Vascular Dementia Panel](https://dantelabs.com/conditions/vascular-dementia-panel.md): A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions. - [Vici Syndrome](https://dantelabs.com/conditions/vici-syndrome-epg5.md): A rare and severe multisystem condition affecting brain development, the eyes, heart, skin colour and immune system. It is caused by changes in both copies of the EPG5 gene, which is needed for autophagy, the cell's recycling system. - [Waardenburg Syndrome](https://dantelabs.com/conditions/waardenburg-shah-syndrome.md): An inherited condition affecting pigment cells and the inner ear, causing hearing loss and differences in the colour of the hair, skin and eyes. Its types range from type 1 and 2 to Waardenburg-Shah syndrome (type 4), which also involves Hirschsprung disease. - [Warsaw Breakage Syndrome](https://dantelabs.com/conditions/warsaw-breakage-syndrome.md): A rare inherited condition with growth restriction, a small head size, intellectual disability and hearing loss, in which chromosomes break more easily. It is caused by changes in both copies of the DDX11 gene. - [Wiedemann-Steiner Syndrome](https://dantelabs.com/conditions/wiedemann-steiner-syndrome.md): A rare developmental condition causing developmental delay or intellectual disability, extra hair growth on the elbows and back, short stature and distinctive facial features. It results from loss of one working copy of the KMT2A gene. - [X-Linked Adrenoleukodystrophy (ABCD1)](https://dantelabs.com/conditions/x-linked-adrenoleukodystrophy.md): An inherited peroxisomal condition caused by changes in the ABCD1 gene, in which very long chain fatty acids build up in the brain, spinal cord and adrenal glands. It includes childhood cerebral ALD, adrenomyeloneuropathy and adrenal insufficiency, and is part of newborn screening in many places. - [You-Hoover-Fong Syndrome (TELO2)](https://dantelabs.com/conditions/you-hoover-fong-syndrome-telo2.md): A rare inherited neurodevelopmental disorder causing intellectual disability, a small head size, short stature and movement problems. It is caused by changes in both copies of the TELO2 gene. - [ZTTK Syndrome](https://dantelabs.com/conditions/zttk-syndrome-son.md): A rare neurodevelopmental disorder causing intellectual disability, developmental delay and a range of differences in brain, eyes, growth and other organs. It is caused by changes in one copy of the SON gene, usually arising new in the child. - [Zellweger Spectrum & Peroxisome Biogenesis Disorders](https://dantelabs.com/conditions/zellweger-spectrum-and-peroxisome-biogenesis-disorders.md): Inherited conditions caused by changes in PEX genes, in which the cell fails to build working peroxisomes. They range from severe Zellweger syndrome in newborns to milder forms recognised in later childhood or adulthood, and include rhizomelic chondrodysplasia punctata (PEX7, PEX5). - [Acrodermatitis Enteropathica](https://dantelabs.com/conditions/acrodermatitis-enteropathica.md): A condition resulting from zinc deficiency, causing a characteristic rash around orifices and extremities, diarrhea, and alopecia. - [Glucose-Galactose Malabsorption](https://dantelabs.com/conditions/glucose-galactose-malabsorption.md): A congenital monosaccharide transport defect caused by mutations in the SLC5A1 gene encoding the SGLT1 sodium-glucose cotransporter. - [Hereditary Folate Malabsorption](https://dantelabs.com/conditions/hereditary-folate-malabsorption.md): An autosomal recessive disorder caused by mutations in the SLC46A1 gene, which encodes the proton-coupled folate transporter (PCFT). Intestinal cells cannot absorb dietary folate or transport it into the central nervous system, leading to severe infantile megaloblastic anemia, failure to thrive, and seizures, despite a normal diet. - [Hereditary Manganese Transporter Disorders](https://dantelabs.com/conditions/hereditary-manganese-transporter-disorders.md): Rare inherited disorders in which manganese builds up in the body because of faulty manganese transporters, causing movement problems such as dystonia and, in some forms, liver disease and a high red blood cell count. - [Lactase Non-Persistence (Adult-Type Lactose Intolerance)](https://dantelabs.com/conditions/lactase-non-persistence.md): A common inherited trait in which the body produces less lactase, the enzyme that digests milk sugar, after early childhood. It is the ancestral human pattern and is not a disease, but it can cause digestive symptoms after eating dairy. - [Thiamine Transporter and Metabolism Disorders](https://dantelabs.com/conditions/thiamine-transporter-and-metabolism-disorders.md): A group of rare inherited disorders that affect how the body transports or uses thiamine (vitamin B1), including thiamine-responsive megaloblastic anaemia and biotin-thiamine-responsive basal ganglia disease. Several respond well to vitamin treatment when started early. - [ADAM9-Related Cone-Rod Dystrophy](https://dantelabs.com/conditions/adam9-related-retinopathy.md): An inherited eye condition in which the light-sensing cone cells, and later the rod cells, of the retina gradually stop working, affecting central and colour vision first. It is caused by changes in both copies of the ADAM9 gene. - [Achromatopsia](https://dantelabs.com/conditions/achromatopsia.md): Achromatopsia is a rare retinal alteration, transmitted in an autosomal recessive manner and characterized by partial or complete color blindness, photophobia, nystagmus (involuntary and repetitive movements of the eyeballs) and severe reduction of visual acuity. - [Age-Related Macular Degeneration](https://dantelabs.com/conditions/age-related-macular-degeneration.md): A common eye condition of later life that damages the macula, the part of the retina responsible for sharp central vision. Both genetic factors (such as CFH and ARMS2) and lifestyle factors such as smoking contribute to the risk. - [Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & Aniridia](https://dantelabs.com/conditions/anterior-segment-dysgenesis-and-aniridia.md): These inherited conditions affect how the front of the eye (the iris, cornea and drainage angle) develops before birth. Many people with them develop glaucoma, so lifelong eye-pressure checks are important. - [BMP4-Related Microphthalmia and Anophthalmia](https://dantelabs.com/conditions/bmp4-related-microphthalmia-anophthalmia.md): An inherited condition in which one or both eyes do not develop fully before birth, so they are small or absent, sometimes with differences in the brain. It is caused by changes in one copy of the BMP4 gene. - [CACNA2D4-Related Retinopathy](https://dantelabs.com/conditions/cacna2d4-related-retinopathy.md): A rare inherited eye condition affecting the cone cells of the retina, reducing cone-mediated vision. It is caused by changes in both copies of CACNA2D4, a gene needed for signalling between light-sensing cells and the rest of the retina. - [CEP290-Related Ciliopathy](https://dantelabs.com/conditions/cep290-related-ciliopathy.md): A group of inherited conditions ranging from severe childhood blindness (Leber congenital amaurosis) to syndromes that also affect the brain, kidneys and liver, such as Joubert syndrome. All are caused by changes in both copies of the CEP290 gene. - [CWC27-Related Retinitis Pigmentosa with Skeletal Anomalies](https://dantelabs.com/conditions/cwc27-retinitis-pigmentosa-skeletal-anomalies.md): A rare inherited condition combining retinitis pigmentosa, a gradual loss of retinal light-sensing cells, with short stature and other skeletal differences. It is caused by changes in both copies of CWC27, which is involved in RNA splicing. - [Choroideremia](https://dantelabs.com/conditions/choroideremia.md): Choroideremia is an inherited condition, mainly affecting males, in which the retina and the layer of blood vessels beneath it gradually waste away. It usually begins with night blindness in childhood, followed by slow loss of side vision. - [Colour Vision Deficiency](https://dantelabs.com/conditions/colour-vision-deficiency.md): Colour vision deficiency, often called colour blindness, means some colours, usually reds and greens, are hard to tell apart. Red-green types are common in men; blue-yellow types and blue cone monochromacy are much rarer. - [Cone-Rod Dystrophy 20 (POC1B)](https://dantelabs.com/conditions/cone-rod-dystrophy-20-poc1b.md): An inherited eye condition in which the cone and later rod cells of the retina gradually stop working, reducing central and colour vision. It is caused by changes in both copies of the POC1B gene. - [Cone-Rod Dystrophy and Hearing Loss 2 (CEP250)](https://dantelabs.com/conditions/cone-rod-dystrophy-hearing-loss-2-cep250.md): A rare inherited condition combining progressive hearing loss with a retinal condition that gradually reduces sight, sometimes called atypical Usher syndrome. It is caused by changes in both copies of the CEP250 gene. - [Congenital Cranial Dysinnervation Disorders](https://dantelabs.com/conditions/congenital-cranial-dysinnervation-disorders.md): Congenital cranial dysinnervation disorders are inherited conditions in which the nerves controlling the eye muscles do not develop normally, limiting eye movements from birth. They include congenital fibrosis of the extraocular muscles and Duane retraction syndrome. - [Congenital Stationary Night Blindness](https://dantelabs.com/conditions/congenital-stationary-night-blindness.md): Congenital stationary night blindness is a group of inherited retinal conditions that cause poor vision in dim light from early childhood. Unlike many retinal conditions it usually does not get worse over time. - [FHONDA Syndrome](https://dantelabs.com/conditions/fhonda-syndrome-slc38a8.md): A rare inherited eye condition in which the central part of the retina does not fully develop and the nerve pathways from the eyes cross abnormally, causing reduced vision and nystagmus. It is caused by changes in both copies of the SLC38A8 gene. - [Fraser Syndrome](https://dantelabs.com/conditions/fraser-syndrome.md): A rare condition affecting development of the eyes, fingers, kidneys, airway and genitals, typically with eyelids that do not separate (cryptophthalmos) and joined fingers or toes. It is caused by changes in both copies of FRAS1, FREM2 or GRIP1. - [Frontonasal Dysplasia 3 (ALX1)](https://dantelabs.com/conditions/frontonasal-dysplasia-3-alx1.md): A rare condition present from birth with severe clefting of the face and very small or absent eyes. It is caused by changes in the ALX1 gene, which guides development of the face. - [GPR143-Related Foveal Hypoplasia (Ocular Albinism Type 1)](https://dantelabs.com/conditions/gpr143-related-ocular-albinism-foveal-hypoplasia.md): An inherited eye condition, mainly affecting males, in which the central retina (fovea) does not fully develop, causing reduced vision and involuntary eye movements. It is caused by changes in the GPR143 gene on the X chromosome. - [GUCY2D-Related Dominant Cone-Rod Dystrophy](https://dantelabs.com/conditions/gucy2d-related-dominant-cone-rod-dystrophy.md): An inherited eye condition in which the cone cells of the retina, and later the rod cells, gradually stop working, causing loss of central and colour vision from childhood or early adulthood. It is caused by changes in one copy of the GUCY2D gene. - [GUCY2D-Related Recessive Retinopathy](https://dantelabs.com/conditions/gucy2d-related-recessive-retinopathy.md): An inherited eye condition, a form of Leber congenital amaurosis type 1, causing severe vision loss from birth or early infancy. It is caused by changes in both copies of the GUCY2D gene, which is needed for light signalling in the retina. - [Glaucoma](https://dantelabs.com/conditions/glaucoma.md): Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. - [Gyrate Atrophy of the Choroid and Retina](https://dantelabs.com/conditions/gyrate-atrophy-of-choroid-and-retina.md): Gyrate atrophy is a rare inherited condition in which a missing enzyme leads to high levels of ornithine in the blood, slowly damaging the retina and choroid. Night blindness and loss of side vision usually start in childhood or adolescence. - [Hereditary Congenital & Juvenile Cataract](https://dantelabs.com/conditions/hereditary-congenital-and-juvenile-cataract.md): Some cataracts, a clouding of the lens of the eye, are inherited and present at birth or develop in childhood or early adulthood. This report also covers hereditary hyperferritinaemia-cataract syndrome, which causes early cataracts and a high ferritin blood level. - [Hereditary Corneal Dystrophies](https://dantelabs.com/conditions/hereditary-corneal-dystrophies.md): Corneal dystrophies are inherited conditions in which material builds up in, or cells are lost from, the clear front window of the eye, gradually clouding vision. They include Fuchs endothelial dystrophy and the TGFBI-related dystrophies. - [Hereditary Macular Dystrophies](https://dantelabs.com/conditions/hereditary-macular-dystrophies.md): Hereditary macular dystrophies are inherited conditions that affect the macula, the central part of the retina used for reading and recognising faces. They include Best disease, pattern dystrophies, Sorsby fundus dystrophy and Bietti crystalline dystrophy. - [Hereditary Optic Neuropathy](https://dantelabs.com/conditions/hereditary-optic-neuropathy.md): A group of inherited disorders characterized by the degeneration of the optic nerve, leading to progressive vision loss. - [Horizontal Gaze Palsy with Progressive Scoliosis](https://dantelabs.com/conditions/horizontal-gaze-palsy-with-progressive-scoliosis.md): A rare inherited condition in which the eyes cannot move side to side from birth, and a curvature of the spine develops and worsens during childhood. It is caused by changes in both copies of the ROBO3 gene, which guides nerve fibres as the brainstem develops. - [IFT140-Related Ciliopathy](https://dantelabs.com/conditions/ift140-related-recessive-ciliopathy.md): An inherited condition affecting cilia that can cause retinal dystrophy, kidney disease and skeletal differences, as in Mainzer-Saldino syndrome. It is caused by changes in both copies of the IFT140 gene. - [IMPG1-Related Dominant Retinopathy](https://dantelabs.com/conditions/impg1-related-dominant-retinopathy.md): An inherited eye condition that can affect the macula, the central part of the retina, causing yellowish deposits and reduced central vision, which can appear in adulthood. It is caused by changes in one copy of the IMPG1 gene in dominant forms, and changes in both copies have also been reported. - [IMPG1-Related Retinopathy](https://dantelabs.com/conditions/impg1-related-recessive-retinopathy.md): A rare inherited form of retinitis pigmentosa, in which the light-sensing cells of the retina gradually stop working. It is caused by changes in IMPG1, which supports the photoreceptors, in one or both copies of the gene. - [Jalili Syndrome](https://dantelabs.com/conditions/jalili-syndrome.md): A rare inherited condition that combines a retinal dystrophy affecting central and colour vision with soft, discoloured tooth enamel (amelogenesis imperfecta). It is caused by changes in both copies of the CNNM4 gene. - [Leber Congenital Amaurosis & RPE65-Related Retinopathy](https://dantelabs.com/conditions/leber-congenital-amaurosis.md): Leber congenital amaurosis is a group of inherited retinal conditions that cause severe vision loss from birth or early childhood. Changes in the RPE65 gene can also cause a related retinal dystrophy that may begin later, and for which an approved gene therapy exists. - [Microcornea-Myopic Chorioretinal Atrophy](https://dantelabs.com/conditions/microcornea-myopic-chorioretinal-atrophy.md): A rare inherited eye condition with a small cornea, high short-sightedness and thinning of the retina and the layer beneath it from early life. It is caused by changes in both copies of the ADAMTS18 gene. - [Microphthalmia, Anophthalmia & Coloboma](https://dantelabs.com/conditions/microphthalmia-anophthalmia-coloboma.md): These are inherited conditions in which one or both eyes do not form fully before birth: an eye may be small (microphthalmia), absent (anophthalmia) or have a gap in one of its structures (coloboma). They are usually apparent at birth. - [Molybdenum Cofactor & Isolated Sulfite Oxidase Deficiency](https://dantelabs.com/conditions/molybdenum-cofactor-and-sulfite-oxidase-deficiency.md): These are rare inherited conditions in which the enzyme sulfite oxidase does not work, so toxic sulfite builds up and damages the brain. They usually start soon after birth with seizures, and can also cause dislocated lenses in the eye. - [Nance-Horan Syndrome](https://dantelabs.com/conditions/nance-horan-syndrome.md): An X-linked condition causing dense cataracts from birth and distinctive teeth, mainly in males, with some having learning difficulties. It is caused by changes in the NHS gene on the X chromosome. - [OPA1-Related Optic Atrophy](https://dantelabs.com/conditions/opa1-related-optic-atrophy.md): An inherited condition in which the optic nerves slowly lose fibres, causing gradual loss of vision from childhood, sometimes with hearing loss or nerve and muscle problems. It is caused by changes in the OPA1 gene. - [OPTN-Related Normal-Tension Glaucoma](https://dantelabs.com/conditions/optn-related-normal-tension-glaucoma.md): A form of glaucoma in which the optic nerve is damaged even though pressure in the eye is within the normal range. A small proportion of familial cases are linked to changes in the OPTN gene. - [Oculocutaneous Albinism](https://dantelabs.com/conditions/oculocutaneous-albinism.md): Oculocutaneous albinism is a group of inherited conditions that cause a reduction in the volume of melanin pigment in the skin, hair, and eyes - [PROM1-Related Recessive Retinopathy](https://dantelabs.com/conditions/prom1-related-recessive-retinopathy.md): An inherited retinal condition causing early and progressive loss of central and then side vision. It is caused by changes in both copies of the PROM1 gene. - [RAB28-Related Cone-Rod Dystrophy](https://dantelabs.com/conditions/rab28-related-cone-rod-dystrophy.md): A rare inherited eye condition in which the cone and then rod cells of the retina gradually stop working, affecting central and colour vision first. It is caused by changes in both copies of RAB28. - [RDH12-Related Early-Onset Retinal Dystrophy](https://dantelabs.com/conditions/rdh12-related-early-onset-retinal-dystrophy.md): An inherited eye condition in which the retina stops working early in life, causing severe vision loss from infancy or early childhood (Leber congenital amaurosis). It is caused by changes in the RDH12 gene, usually in both copies. - [RDH5-Related Retinopathy (Fundus Albipunctatus)](https://dantelabs.com/conditions/rdh5-related-retinopathy-fundus-albipunctatus.md): An inherited eye condition causing night blindness from childhood, with many small white dots visible at the back of the eye. It is caused by changes in both copies of the RDH5 gene, which recycles vitamin A in the retina. - [ROSAH Syndrome](https://dantelabs.com/conditions/rosah-syndrome-alpk1.md): A rare inherited inflammatory condition causing retinal dystrophy, optic nerve swelling, an enlarged spleen, reduced sweating and headaches, and sometimes recurrent fevers. It is caused by a change in one copy of the ALPK1 gene. - [Retinal Dystrophy Due to Retinol Transport Defect (RBP4)](https://dantelabs.com/conditions/rbp4-retinal-dystrophy-retinol-transport-defect.md): A rare inherited eye condition in which vitamin A cannot be carried properly in the blood to the eye, causing gradual damage to the retina. It is caused by changes in both copies of the RBP4 gene. - [Retinitis Pigmentosa](https://dantelabs.com/conditions/retinitis-pigmentosa.md): A group of inherited eye diseases characterized by the progressive degeneration of the retina, leading to severe vision impairment and eventual blindness, often with characteristic pigment deposits. - [Smith-Lemli-Opitz Syndrome](https://dantelabs.com/conditions/smith-lemli-opitz-syndrome.md): Smith-Lemli-Opitz syndrome is an inherited condition in which the body cannot make cholesterol properly. It affects growth, development and many organs, and can include cataracts. Carriers have no symptoms but can pass the condition on. - [Stargardt Disease](https://dantelabs.com/conditions/stargardt-disease.md): The most common inherited macular dystrophy, usually caused by variants in ABCA4. It causes progressive loss of central vision, often starting in childhood or early adulthood. - [TTLL5-Related Retinopathy](https://dantelabs.com/conditions/ttll5-related-retinopathy.md): An inherited retinal condition causing gradual loss of central and colour vision, often beginning in adulthood. It is caused by changes in both copies of the TTLL5 gene, which also affects sperm movement in some men. - [TUBB4B-Related Ciliopathy](https://dantelabs.com/conditions/tubb4b-related-ciliopathy.md): A rare condition affecting cilia that can cause severe early sight loss and hearing loss, and in some people breathing problems. It is caused by a change in one copy of the TUBB4B gene, which can arise for the first time in the affected person. - [Vitreoretinopathy](https://dantelabs.com/conditions/vitreoretinopathy.md): Proliferative vitreoretinopathy (PVR) is a severe complication of retinal detachment where scar tissue forms, causing tractional detachment. - [Amelogenesis Imperfecta](https://dantelabs.com/conditions/amelogenesis-imperfecta.md): Amelogenesis imperfecta is a group of inherited genetic conditions that cause tooth enamel to form incorrectly or not at all. - [Blepharocheilodontic Syndrome 2 (CTNND1)](https://dantelabs.com/conditions/blepharocheilodontic-syndrome-2-ctnnd1.md): A rare condition affecting the eyelids, lips and teeth, typically with wide eyelid openings, cleft lip or palate and missing teeth. It is caused by changes in one copy of the CTNND1 gene. - [Dentinogenesis Imperfecta](https://dantelabs.com/conditions/dentinogenesis-imperfecta.md): An inherited defect affects dentin proteins, leaving teeth translucent, blue-gray, or brown and very weak. - [Hereditary Gingival Fibromatosis](https://dantelabs.com/conditions/hereditary-gingival-fibromatosis.md): A rare inherited condition in which the gums slowly overgrow, which can cover the teeth and affect eating, speech and tooth position. It is usually managed by a dentist or periodontist. - [Hereditary Orofacial Clefting](https://dantelabs.com/conditions/hereditary-orofacial-clefting.md): Inherited forms of cleft lip and/or cleft palate caused by single genes, including van der Woude syndrome, the most common genetic cause of cleft lip and palate. Features can vary widely within a family, from a full cleft to only small pits in the lower lip or missing teeth. - [Hypodontia and Anodontia](https://dantelabs.com/conditions/hypodontia-and-anodontia.md): Genetic abnormalities cause a person to be born missing several teeth (hypodontia) or all teeth (anodontia). - [OFD1-Related Ciliopathy](https://dantelabs.com/conditions/ofd1-related-ciliopathy.md): A group of conditions affecting cilia, most often oral-facial-digital syndrome type 1, which affects the mouth, face, fingers and kidneys and mainly occurs in females. It is caused by changes in the OFD1 gene on the X chromosome. - [Primary Failure of Tooth Eruption](https://dantelabs.com/conditions/primary-failure-of-tooth-eruption.md): An inherited condition in which some back teeth fail to erupt or stop erupting, even though nothing is blocking them. It is caused by changes in the PTH1R gene. - [Van der Woude and Popliteal Pterygium Syndromes (IRF6)](https://dantelabs.com/conditions/irf6-related-van-der-woude-popliteal-pterygium.md): Related inherited conditions causing cleft lip and/or palate and small pits in the lower lip; the popliteal pterygium form also includes webbing behind the knees and other differences. Both are caused by a change in one copy of the IRF6 gene. - [22q11.2 Deletion Syndrome](https://dantelabs.com/conditions/22q11-2-deletion-syndrome.md): A common chromosomal microdeletion, also known as DiGeorge or velocardiofacial syndrome, that can affect the heart, immune system, calcium balance, palate, learning and mental health. Features vary widely, and some people are diagnosed only in adulthood. - [Bardet-Biedl and Alström Syndromes](https://dantelabs.com/conditions/bardet-biedl-and-alstrom-syndromes.md): Recessive ciliopathies that cause childhood-onset retinal degeneration, obesity and kidney and metabolic problems. Carrier status is relevant to family planning. - [CHARGE Syndrome](https://dantelabs.com/conditions/charge-syndrome.md): A multi-system condition, usually caused by a new variant in CHD7, that affects the eyes, heart, nasal passages, growth, genitals and ears. - [Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-Wiedemann](https://dantelabs.com/conditions/imprinting-disorders.md): Conditions caused by changes in genes whose activity depends on which parent they were inherited from. Most cases arise from deletions, uniparental disomy or methylation changes that whole genome sequencing cannot fully assess. - [LAMA5-Related Multisystemic Syndrome](https://dantelabs.com/conditions/lama5-related-multisystemic-syndrome.md): A rare inherited condition affecting several body systems, which can include muscles, kidneys and brain development. It is caused by changes in both copies of the LAMA5 gene. - [Simpson-Golabi-Behmel Syndrome](https://dantelabs.com/conditions/simpson-golabi-behmel-syndrome-gpc3.md): An X-linked overgrowth condition, mainly affecting boys, causing large size before and after birth, distinctive facial features and an increased risk of some childhood tumours. It is caused by changes in or deletions of the GPC3 gene. - [Werner Syndrome](https://dantelabs.com/conditions/werner-syndrome.md): A rare recessive condition in which features of ageing, such as cataracts, diabetes and hardening of the arteries, appear early in adult life, together with a higher risk of some cancers. - [X-Linked Opitz G/BBB Syndrome](https://dantelabs.com/conditions/x-linked-opitz-g-bbb-syndrome.md): A rare developmental condition mainly affecting boys, with widely spaced eyes, differences in the opening of the urethra, and abnormalities of the voice box, windpipe or oesophagus. It is caused by changes in the MID1 gene on the X chromosome. - [Björnstad Syndrome](https://dantelabs.com/conditions/bjornstad-syndrome-bcs1l.md): A rare condition combining twisted, fragile hair (pili torti) with hearing loss from early childhood. It is caused by changes in both copies of the BCS1L gene, which is needed for energy production in mitochondria. - [Branchio-Oto-Renal Spectrum Disorder](https://dantelabs.com/conditions/branchio-oto-renal-spectrum-disorder.md): Branchio-oto-renal spectrum disorder is an inherited condition affecting the ears, neck and sometimes the kidneys. Hearing loss is common and kidney differences can range from none to significant. - [Burn-McKeown Syndrome](https://dantelabs.com/conditions/burn-mckeown-syndrome.md): A rare inherited condition in which the back of the nose is blocked at birth (choanal atresia), with hearing loss, heart defects and distinctive facial features. It is caused by changes in both copies of the TXNL4A gene. - [Chudley-McCullough Syndrome](https://dantelabs.com/conditions/chudley-mccullough-syndrome.md): A rare condition causing severe hearing loss from birth or early childhood together with characteristic changes in brain structure, usually with normal or near-normal intelligence. It is caused by changes in both copies of the GPSM2 gene. - [Deafness-Dystonia-Optic Neuronopathy Syndrome](https://dantelabs.com/conditions/deafness-dystonia-optic-neuronopathy.md): Deafness-dystonia-optic neuronopathy syndrome, also called Mohr-Tranebjaerg syndrome, is a rare X-linked condition mainly affecting boys. It begins with progressive hearing loss and later causes movement problems and vision loss. - [Hearing Loss and Deafness](https://dantelabs.com/conditions/hearing-loss-and-deafness.md): A comprehensive review or discussion, typically by a group of experts, on the causes, diagnosis, treatment, and prevention of impaired hearing, encompassing a range from mild loss to profound deafness. - [High Myopia with Sensorineural Deafness](https://dantelabs.com/conditions/high-myopia-sensorineural-deafness-slitrk6.md): A rare inherited condition causing severe short-sightedness and hearing loss from early childhood. It is caused by changes in both copies of the SLITRK6 gene, which is needed for the development of the inner ear and the eye. - [Johanson-Blizzard Syndrome](https://dantelabs.com/conditions/johanson-blizzard-syndrome.md): Johanson-Blizzard syndrome is a very rare recessive condition that causes hearing loss from birth together with problems in how the pancreas produces digestive enzymes. - [Labyrinthine Aplasia, Microtia and Microdontia (LAMM)](https://dantelabs.com/conditions/labyrinthine-aplasia-microtia-microdontia-fgf3.md): A rare condition present from birth in which the inner ear does not form, causing profound deafness, together with small outer ears and small, widely spaced teeth. It is caused by changes in both copies of the FGF3 gene. - [Treacher Collins Syndrome](https://dantelabs.com/conditions/treacher-collins-syndrome.md): Treacher Collins syndrome is an inherited condition that affects how the bones and tissues of the face develop. About half of affected people have conductive hearing loss. - [Usher Syndrome](https://dantelabs.com/conditions/usher-syndrome.md): Usher syndrome is an inherited condition that causes hearing loss together with gradual loss of vision from retinitis pigmentosa. It is the most common genetic cause of combined deafness and blindness. - [Attention Deficit-Hyperactivity Disorder (ADHD)](https://dantelabs.com/conditions/adhd.md): ADHD is a disorder related to attention deficit. It's often observed in school-aged children and can have an impact on education and conduct in education. - [Autism Spectrum Disorder](https://dantelabs.com/conditions/autism-spectrum-disorder.md): A neurodevelopmental condition characterized by challenges in social interaction, communication, and the presence of restricted or repetitive behaviors and interests. - [Intellectual Disability](https://dantelabs.com/conditions/intellectual-disability.md): Inherited intellectual disorder covers a significant number of conditions related to intellectual impairment. Many of these conditions are X-linked. - [Schizophrenia Panel](https://dantelabs.com/conditions/schizophrenia-panel.md): A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality. - [Alpha-1 Antitrypsin Deficiency](https://dantelabs.com/conditions/alpha-1-antitrypsin-deficiency.md): An inherited condition caused by variants in the SERPINA1 gene, which lowers levels of a protein that protects the lungs. It can lead to early emphysema (especially in smokers) and to liver disease in children and adults. - [Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins](https://dantelabs.com/conditions/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins.md): A rare, usually fatal developmental lung disorder of newborns in which the blood vessels of the lungs form abnormally. It is caused by changes in or near the FOXF1 gene, which usually arise new in the affected child. - [Asthma](https://dantelabs.com/conditions/asthma.md): A chronic inflammatory disease of the airways characterized by recurrent episodes of wheezing, shortness of breath, chest tightness, and coughing due to reversible airway obstruction. - [Congenital Central Hypoventilation Syndrome](https://dantelabs.com/conditions/congenital-central-hypoventilation-syndrome.md): A rare inherited disorder of the automatic control of breathing, in which breathing becomes too shallow, especially during sleep. It is usually caused by changes in the PHOX2B gene and most often appears in newborns, though milder forms can first be recognised in later childhood or adulthood. - [Congenital Diaphragmatic Hernia (Monogenic)](https://dantelabs.com/conditions/congenital-diaphragmatic-hernia.md): A birth defect in which the diaphragm does not form completely, allowing abdominal organs to move into the chest and affecting lung development. Most cases are not inherited in a simple way; this report covers the rare forms linked to single genes. - [Cystic Fibrosis](https://dantelabs.com/conditions/cystic-fibrosis.md): This is a report looking into the genetic causes of Cystic Fibrosis in a patient sample. The report presents drug associations and disease-modulating variants. - [Familial Pulmonary Fibrosis](https://dantelabs.com/conditions/familial-pulmonary-fibrosis.md): Inherited forms of lung scarring (pulmonary fibrosis), most often linked to genes that maintain telomeres, the protective ends of chromosomes, and less often to surfactant-protein genes. Telomere-related forms can also affect the bone marrow and liver. - [Primary Ciliary Dyskinesia](https://dantelabs.com/conditions/primary-ciliary-dyskinesia.md): A rare, genetic disorder characterized by defective ciliary structure or function, leading to impaired mucociliary clearance in the respiratory tract and other organ systems. - [Pulmonary Alveolar Microlithiasis](https://dantelabs.com/conditions/pulmonary-alveolar-microlithiasis.md): A rare inherited lung disease in which tiny calcium-phosphate stones build up in the air sacs of the lungs, often progressing slowly over many years. It is caused by changes in the SLC34A2 gene. - [Surfactant Metabolism Dysfunction](https://dantelabs.com/conditions/surfactant-metabolism-dysfunction.md): A condition characterized by impaired synthesis, secretion, recycling, or degradation of pulmonary surfactant, leading to increased surface tension in the alveoli, alveolar collapse, and respiratory distress. - [46,XX Differences of Sex Development](https://dantelabs.com/conditions/46-xx-differences-of-sex-development.md): Rare conditions in which people with XX chromosomes develop testes or both ovarian and testicular tissue, often first identified through male infertility. - [46,XY Differences of Sex Development and Gonadal Dysgenesis](https://dantelabs.com/conditions/46-xy-differences-of-sex-development.md): A group of inherited conditions in which people with XY chromosomes have atypical development of the testes or genitalia, including Swyer syndrome, 5-alpha-reductase deficiency and NR5A1-related disorders. - [Androgen Insensitivity Syndrome](https://dantelabs.com/conditions/androgen-insensitivity-syndrome.md): An X-linked condition in which the body responds partly or not at all to male hormones, so people with XY chromosomes develop female or ambiguous external genitalia. Carrier status matters for family planning. - [Female Infertility](https://dantelabs.com/conditions/female-infertility.md): Diminished or absent ability of a female to achieve conception. - [Hereditary Hypospadias](https://dantelabs.com/conditions/hereditary-hypospadias.md): Single-gene forms of hypospadias, a birth difference in which the opening of the urethra is on the underside of the penis. Most hypospadias is not caused by a single gene. - [Male Infertility](https://dantelabs.com/conditions/male-infertility.md): The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility. - [Müllerian Aplasia (MRKH Syndrome)](https://dantelabs.com/conditions/mullerian-aplasia-mrkh-syndrome.md): Conditions in which the uterus and upper vagina do not develop, a common cause of absent periods. A genetic cause is found in only a minority of cases. - [Sex Chromosome Aneuploidies](https://dantelabs.com/conditions/sex-chromosome-aneuploidies.md): Conditions caused by an extra or missing X or Y chromosome, such as Klinefelter and Turner syndromes. Many people are never diagnosed, and some first learn of it through infertility. - [Circadian Rhythm Sleep Disorder](https://dantelabs.com/conditions/circadian-rhythm-sleep-disorder.md): A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule. - [Acute Alcohol Sensitivity](https://dantelabs.com/conditions/acute-alcohol-sensitivity.md): Acute alcohol sensitivity is an inherited reduction in the body's ability to break down acetaldehyde, a toxic product of alcohol. It causes facial flushing and discomfort after drinking. - [Aminoglycoside-Induced Hearing Loss](https://dantelabs.com/conditions/aminoglycoside-induced-hearing-loss.md): Some people carry a variant in their mitochondrial DNA that makes them very sensitive to aminoglycoside antibiotics, such as gentamicin. In these people even a single dose can cause permanent hearing loss. - [Butyrylcholinesterase Deficiency](https://dantelabs.com/conditions/butyrylcholinesterase-deficiency.md): Butyrylcholinesterase deficiency, also called pseudocholinesterase deficiency, is an inherited condition in which the body breaks down certain anaesthetic drugs very slowly. It causes no symptoms in daily life. - [Malignant Hyperthermia Susceptibility](https://dantelabs.com/conditions/malignant-hyperthermia-susceptibility.md): Malignant hyperthermia susceptibility is an inherited tendency to a dangerous reaction to certain general anaesthetics and, more rarely, to intense exercise or heat. It usually causes no symptoms until a trigger is encountered. - [Alport Syndrome](https://dantelabs.com/conditions/alport-syndrome.md): A genetic disorder characterized by progressive kidney disease, hearing loss, and eye abnormalities due to defects in type IV collagen. - [Autosomal Dominant Tubulointerstitial Kidney Disease](https://dantelabs.com/conditions/autosomal-dominant-tubulointerstitial-kidney-disease.md): A group of dominantly inherited conditions that cause slowly progressive kidney scarring with few changes in the urine, often alongside gout or high uric acid. It is an under-recognized cause of chronic kidney disease running in families. - [Bartter Disease](https://dantelabs.com/conditions/bartter-disease.md): A rare, inherited kidney disorder affecting the reabsorption of electrolytes in the renal tubules, resulting in persistent hypokalemia, metabolic alkalosis, and elevated levels of renin and aldosterone. - [CEP164-Related Ciliopathy](https://dantelabs.com/conditions/cep164-related-ciliopathy.md): A rare ciliopathy that mainly affects the kidneys (nephronophthisis). It is caused by changes in both copies of the CEP164 gene. - [Congenital Anomalies of the Kidney and Urinary Tract](https://dantelabs.com/conditions/congenital-anomalies-kidney-urinary-tract.md): Differences in how the kidneys and urinary tract form before birth, ranging from small or absent kidneys to urine reflux. They are the leading cause of chronic kidney disease in children, and some have a genetic cause. - [Cystinuria](https://dantelabs.com/conditions/cystinuria.md): Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones. - [Dent Disease and Lowe Syndrome](https://dantelabs.com/conditions/dent-disease-lowe-syndrome.md): Related X-linked conditions that mainly affect males, causing loss of protein and calcium in the urine, kidney stones and gradual kidney damage. Lowe syndrome also affects the eyes and brain. - [Familial Hypomagnesemia](https://dantelabs.com/conditions/familial-hypomagnesemia.md): Inherited conditions in which the kidneys or gut fail to hold on to magnesium, causing low blood magnesium that can lead to muscle cramps, seizures and, in some forms, kidney damage. - [Fanconi Renotubular Syndrome and Renal Glucosuria](https://dantelabs.com/conditions/fanconi-renotubular-syndrome-renal-glucosuria.md): Inherited conditions in which the kidney tubules let glucose, and in Fanconi syndrome also phosphate, amino acids and bicarbonate, leak into the urine. Renal glucosuria is usually harmless. - [Focal Segmental Glomerulosclerosis](https://dantelabs.com/conditions/focal-segmental-glomerulosclerosis.md): A kidney disease characterized by the scarring of a portion (segmental) of some (focal) glomeruli, leading to proteinuria and progressive loss of kidney function. - [Gitelman Syndrome](https://dantelabs.com/conditions/gitelman-syndrome.md): Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. - [Glomerulosclerosis](https://dantelabs.com/conditions/glomerulosclerosis.md): A hardening of the kidney glomerulus caused by scarring of the blood vessels. - [Hemolytic Uremic Syndrome, Interstitial Nephritis](https://dantelabs.com/conditions/hemolytic-uremic-syndrome-interstitial-nephritis.md): Hemolytic Uremic Syndrome, a serious condition characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury; and Interstitial Nephritis, an inflammatory disorder of the renal tubules and interstitium; both leading to impaired kidney function. - [KCNJ16-Related Hypokalaemic Tubulopathy](https://dantelabs.com/conditions/kcnj16-related-hypokalaemic-tubulopathy.md): A rare inherited kidney condition in which the kidney tubules lose too much salt and potassium, upsetting the body's acid balance, often with hearing loss. It is caused by changes in both copies of the KCNJ16 gene. - [Kidney Cancer](https://dantelabs.com/conditions/kidney-cancer.md): Primary or metastatic malignant neoplasm involving the kidney. - [NEK8-Related Renal-Hepatic-Pancreatic Dysplasia](https://dantelabs.com/conditions/nek8-renal-hepatic-pancreatic-dysplasia.md): A rare ciliopathy in which the kidneys, liver and pancreas develop abnormally, with cysts in the kidneys; milder forms affect mainly the kidneys. It is caused by changes in the NEK8 gene. - [Nephrogenic Diabetes Insipidus](https://dantelabs.com/conditions/nephrogenic-diabetes-insipidus.md): Inherited conditions in which the kidneys do not respond to the hormone that concentrates urine, leading to large volumes of dilute urine and a risk of dehydration, especially in infants. - [Nephronophthisis and Senior-Løken Syndrome](https://dantelabs.com/conditions/nephronophthisis-senior-loken-syndrome.md): Inherited conditions in which the kidney tubules gradually scar and form small cysts, often leading to kidney failure in childhood or early adulthood. In Senior-Løken syndrome the retina is also affected. - [Nephrotic Syndrome](https://dantelabs.com/conditions/nephrotic-syndrome.md): A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. - [PBX1-Related Kidney and Urinary Tract Anomalies](https://dantelabs.com/conditions/pbx1-related-kidney-and-urinary-tract-anomalies.md): A rare developmental condition in which the kidneys and urinary tract form differently, sometimes with ear differences or developmental delay. It is caused by changes in one copy of the PBX1 gene. - [Polycystic Kidney Disease](https://dantelabs.com/conditions/polycystic-kidney-disease.md): A genetic disorder characterized by the growth of numerous cysts in the kidneys, impairing their function over time. - [Renal Hypouricemia](https://dantelabs.com/conditions/renal-hypouricemia.md): An inherited condition in which the kidneys lose too much uric acid into the urine, leaving very low blood uric acid levels. It is often silent but can cause kidney stones or sudden kidney injury after strenuous exercise. - [Renal Tubular Acidosis](https://dantelabs.com/conditions/renal-tubular-acidosis.md): Inherited conditions in which the kidneys cannot properly remove acid from the blood or reabsorb bicarbonate, which can affect growth, bones and the kidneys themselves. - [Renal Tubular Dysgenesis](https://dantelabs.com/conditions/renal-tubular-dysgenesis.md): A rare, severe recessive condition in which the kidney tubules do not develop properly before birth. Its main relevance to adults is carrier status for family planning. - [Urinary and Renal System Tumour](https://dantelabs.com/conditions/urinary-and-renal-system-tumour.md): A benign or malignant, primary or metastatic neoplasm involving the urinary system. ## Risk scores - [Alzheimer's Disease](https://dantelabs.com/conditions/risk/alzheimers-disease.md): Alzheimer's disease is the most common cause of dementia. Age and the APOE gene are its strongest risk factors, and this score adds many other common variants. - [Migraine](https://dantelabs.com/conditions/risk/migraine.md): Migraine causes recurring, often severe headaches, sometimes with visual disturbances. It is common and runs in families. - [Basal Cell Carcinoma](https://dantelabs.com/conditions/risk/basal-cell-carcinoma.md): Basal cell carcinoma is the most common skin cancer. It grows slowly and rarely spreads, and sun exposure and skin type are its main risk factors. - [Colorectal Cancer](https://dantelabs.com/conditions/risk/colorectal-cancer.md): Colorectal cancer affects the colon or rectum and is one of the most common cancers worldwide. Screening can find it early, and family history and genetics both add to risk. - [Lung Cancer](https://dantelabs.com/conditions/risk/lung-cancer.md): Smoking is by far the largest risk factor for lung cancer, but inherited variants also play a part, in smokers and non-smokers alike. - [Melanoma](https://dantelabs.com/conditions/risk/melanoma.md): Melanoma is a skin cancer arising from pigment cells. Sun exposure, fair skin and many moles raise risk, and so do inherited variants. - [Ovarian Cancer](https://dantelabs.com/conditions/risk/ovarian-cancer.md): Epithelial ovarian cancer is the most common form of ovarian cancer. Rare variants such as BRCA1 and BRCA2 carry most inherited risk; this score captures the common ones. - [Pancreatic Cancer](https://dantelabs.com/conditions/risk/pancreatic-cancer.md): Pancreatic ductal adenocarcinoma is the most common pancreatic cancer. It is uncommon but often found late; smoking, diabetes and family history raise risk. - [Prostate Cancer](https://dantelabs.com/conditions/risk/prostate-cancer.md): Prostate cancer is the most commonly diagnosed cancer in men in many countries. This score combines 269 variants found in a multi-ancestry study of over 200,000 men. - [Abdominal Aortic Aneurysm](https://dantelabs.com/conditions/risk/abdominal-aortic-aneurysm.md): An abdominal aortic aneurysm is a bulge in the body's main artery. It is most common in older men who have smoked, and is often screened for with an ultrasound. - [Atrial Fibrillation](https://dantelabs.com/conditions/risk/atrial-fibrillation.md): Atrial fibrillation is the most common heart rhythm disorder. It becomes more common with age and raises the risk of stroke. - [Blood Pressure](https://dantelabs.com/conditions/risk/blood-pressure.md): Your genetic tendency towards higher or lower systolic blood pressure. High blood pressure is a leading, and treatable, risk factor for heart disease and stroke. - [Coronary Artery Disease](https://dantelabs.com/conditions/risk/coronary-artery-disease.md): Coronary artery disease is the narrowing of the arteries that supply the heart, and the main cause of heart attacks. This score uses about 40,000 variants. - [Heart Failure](https://dantelabs.com/conditions/risk/heart-failure.md): Heart failure is when the heart can't pump as well as the body needs. It often follows high blood pressure or coronary artery disease. - [LDL Cholesterol](https://dantelabs.com/conditions/risk/ldl-cholesterol.md): Your genetic tendency towards higher or lower LDL ("bad") cholesterol, which builds up in artery walls. The score was built from a multi-ancestry study of 1.6 million people. - [Lipoprotein(a)](https://dantelabs.com/conditions/risk/lipoprotein-a.md): Lipoprotein(a) is a cholesterol-carrying particle whose level is set largely by genetics and barely changes with lifestyle. High levels raise the risk of heart disease. - [Stroke](https://dantelabs.com/conditions/risk/stroke.md): A stroke happens when blood supply to part of the brain is cut off or a vessel bleeds. Blood pressure, smoking and activity matter most, and genetics adds to them. - [Venous Thromboembolism](https://dantelabs.com/conditions/risk/venous-thromboembolism.md): Venous thromboembolism covers blood clots in the deep veins (DVT) and lungs (pulmonary embolism). Surgery, long travel, pregnancy and some medicines raise risk. - [Allergies](https://dantelabs.com/conditions/risk/allergies.md): A shared genetic predisposition to asthma, hay fever and eczema, which often occur together. - [Coeliac Disease](https://dantelabs.com/conditions/risk/coeliac-disease.md): Coeliac disease is an immune reaction to gluten that damages the small intestine. Almost everyone with it carries the HLA-DQ2 or DQ8 types. - [Inflammatory Bowel Disease](https://dantelabs.com/conditions/risk/inflammatory-bowel-disease.md): Inflammatory bowel disease, which includes Crohn's disease and ulcerative colitis, causes long-term inflammation of the gut. - [Psoriasis](https://dantelabs.com/conditions/risk/psoriasis.md): Psoriasis is an immune-driven skin condition causing red, scaly patches. It is strongly heritable. - [Systemic lupus erythematosus (Lupus)](https://dantelabs.com/conditions/risk/sle-risk.md): Systemic lupus erythematosus (SLE) is a chronic autoimmune disease where the immune system mistakenly attacks healthy tissues and organs. - [Caffeine Sensitivity](https://dantelabs.com/conditions/risk/coffee-intake.md): Whether your genetics lean towards drinking more or less coffee, partly through how quickly you break down caffeine. - [Male Pattern Baldness](https://dantelabs.com/conditions/risk/male-pattern-baldness.md): Male pattern baldness is hair loss from the temples and crown. It is highly heritable, and this score is for men. - [Morning or Evening Person](https://dantelabs.com/conditions/risk/chronotype.md): Whether your genetics lean towards being a morning lark or a night owl. - [Skin Tanning](https://dantelabs.com/conditions/risk/skin-tanning.md): Whether your genetics lean towards tanning easily or burning. Skin that burns easily is more vulnerable to sun damage. - [Sleep Duration](https://dantelabs.com/conditions/risk/sleep-duration.md): Your genetic tendency towards sleeping longer or shorter each night. - [Vitamin D](https://dantelabs.com/conditions/risk/vitamin-d.md): Your genetic tendency towards higher or lower vitamin D levels. Sunlight, diet and supplements matter most. - [Age-related Macular Degeneration](https://dantelabs.com/conditions/risk/macular-degeneration.md): Age-related macular degeneration affects the centre of the retina and is a leading cause of sight loss in older adults. Genetics plays a large part. - [Bone Mineral Density](https://dantelabs.com/conditions/risk/bone-mineral-density.md): Your genetic tendency towards denser or thinner bones. Low bone density leads to osteoporosis and fractures later in life. - [Facial Ageing](https://dantelabs.com/conditions/risk/facial-ageing.md): Whether your genetics resemble those of people who say they look younger than their age. Sun, smoking and skin care matter too. - [Glaucoma](https://dantelabs.com/conditions/risk/glaucoma.md): Glaucoma damages the optic nerve, often without symptoms until sight is lost. It is strongly heritable, and eye pressure checks can find it early. - [Lifespan (Men)](https://dantelabs.com/conditions/risk/lifespan-men.md): A score for men that combines genetic influences on many causes of death, from heart disease to smoking behaviour, into one estimate of all-cause mortality. - [Lifespan (Women)](https://dantelabs.com/conditions/risk/lifespan-women.md): A score for women that combines genetic influences on many causes of death, from heart disease to smoking behaviour, into one estimate of all-cause mortality. - [Longevity](https://dantelabs.com/conditions/risk/longevity.md): Whether your genetics resemble those of people who live exceptionally long. The score draws on a study of over a million parents' lifespans. - [ADHD](https://dantelabs.com/conditions/risk/adhd.md): Attention deficit hyperactivity disorder (ADHD) affects attention, activity and impulse control. It is highly heritable. - [Anxiety](https://dantelabs.com/conditions/risk/anxiety.md): Whether your genetics lean towards feeling worry or anxiety more often. - [Autism](https://dantelabs.com/conditions/risk/autism.md): Autism describes differences in social communication and behaviour. Common genetic variants account for part of its heritability. - [Depression](https://dantelabs.com/conditions/risk/depression.md): Depression is common and treatable. Life events and circumstances matter most, and genetics adds a modest part of the risk. - [Happiness](https://dantelabs.com/conditions/risk/happiness.md): Whether your genetics lean towards reporting greater or lesser general happiness. - [Loneliness](https://dantelabs.com/conditions/risk/loneliness.md): Whether your genetics lean towards feeling lonely more often. - [Neuroticism](https://dantelabs.com/conditions/risk/neuroticism.md): Neuroticism is a personality trait describing how strongly someone tends to experience negative emotions like worry, guilt or irritability. - [Post-traumatic Stress Disorder](https://dantelabs.com/conditions/risk/ptsd.md): Post-traumatic stress disorder (PTSD) can develop after a traumatic event. Genetics influences how likely it is to develop after trauma. - [Body Mass Index](https://dantelabs.com/conditions/risk/body-mass-index.md): Your genetic tendency towards a higher or lower body mass index (BMI). Genetics shapes appetite and weight, alongside diet and activity. - [Height](https://dantelabs.com/conditions/risk/height.md): Your genetic tendency to be taller or shorter. Height is one of the most heritable human traits, shaped by thousands of variants. - [Type 1 Diabetes](https://dantelabs.com/conditions/risk/type-1-diabetes.md): Type 1 diabetes is an autoimmune condition in which the body destroys its own insulin-making cells. It usually starts in childhood or early adulthood. - [Type 2 Diabetes](https://dantelabs.com/conditions/risk/type-2-diabetes.md): Type 2 diabetes is when the body stops responding well to insulin. Weight, diet and activity are the main risk factors, and genetics adds to them. - [Uric Acid & Gout](https://dantelabs.com/conditions/risk/uric-acid-gout.md): Your genetic tendency towards higher uric acid in the blood. High levels can crystallise in joints and cause gout. ## Pharmacogenomics - [Pharmacogenomics](https://dantelabs.com/whole-genome-sequencing/pharmacogenomics.md): How your genome shapes your response to common medications — drawn live from your genome for the gene–drug pairs that single-variant data can call reliably. ## Ancestry - [Ancestry](https://dantelabs.com/whole-genome-sequencing/ancestry.md): Your paternal and maternal lines from full Y-chromosome and mitochondrial haplogroup calls, and your autosomal ancestry estimated across 26 reference populations. ## Carrier screening - [Carrier Screening](https://dantelabs.com/whole-genome-sequencing/carrier-screening.md): Whether you carry a variant for an inherited recessive or X-linked condition that you could pass on to your children, read from your whole genome rather than a fixed panel. ## Lifestyle & wellness - [Nutrigenetics](https://dantelabs.com/whole-genome-sequencing/nutrigenetics.md): Twelve loci across four chapters where your genome shapes how you eat, absorb, and process from caffeine and alcohol to vitamins, fats, and taste. - [Sleep & Chronotype](https://dantelabs.com/whole-genome-sequencing/sleep.md): Ten loci across four chapters that shape when your body wants to sleep, how deeply it rests, how long it needs, and what disrupts it — from the circadian clock to adenosine and the genetics of sleep duration. - [Sports & Performance](https://dantelabs.com/whole-genome-sequencing/fitness.md): Thirteen loci across four chapters that shape how your body responds to training — from explosive power and the aerobic engine to injury resilience, recovery, and adaptation. ## Learn - [Sample prep: what happens before we sequence your DNA?](https://dantelabs.com/learn/extraction-and-fragmentation.md): Before we can sequence your DNA we need to prepare individual molecules that can be loaded into our sequencer. - [What is next-generation sequencing?](https://dantelabs.com/learn/what-is-next-generation-sequencing.md): How modern instruments read a whole genome by sequencing millions of short DNA fragments at once, and why each letter is read many times over. ## Blog - [More Than 100 Scientific Papers Have Used Dante Labs Technology for Research in Transcriptomics, CRISPR, Ancient DNA, Rare Diseases, and Oncology](https://dantelabs.com/blog/100-scientific-papers-dante-labs-genomics-research.md): More than 100 peer-reviewed papers leveraged Dante Labs sequencing and bioinformatics across transcriptomics, CRISPR, ancient DNA, rare diseases, and oncology. - [Not all genomes are the same: a 9x precision improvement in precision medicine and CRISPR, published on Nature](https://dantelabs.com/blog/isogenomic-reference-precision-medicine-crispr.md): Discover how isogenomic reference genomes deliver a 9x precision upgrade for CRISPR and eliminate distortion in transcriptomics and epigenomics. - [The Most Important Measurement to Take When You Turn 60](https://dantelabs.com/blog/most-important-measurement-at-60.md): Discover why RNA transcriptomics is the most important health measurement at age 60. Learn how gene expression profiling reveals your biological age and immediate health trajectory. - [No one listened. Then a Dante Labs Whole Genome Report Gave a Single Mother's Two Children a Name for Their Disease and Access to the Specialists They Needed](https://dantelabs.com/blog/periodic-paralysis-whole-genome-report.md): A single mother's two children suffered unexplained episodes of paralysis for years. Whole genome sequencing identified pathogenic variants associated with periodic paralysis — and changed everything. - [BRCA, Lynch, and Beyond: What Hereditary Cancer Screening Actually Reveals](https://dantelabs.com/blog/hereditary-cancer-brca-lynch-screening.md): Hereditary cancer syndromes account for 5–10% of all cancers. What whole genome sequencing can detect, and what it means for your family. - [One Test, Updated for Life: How Genome Science Gets Better Every Year](https://dantelabs.com/blog/genome-test-lifetime-updates.md): Your DNA doesn't change — but the science that interprets it does. How WGS results improve over time through automatic reanalysis and report updates. - [Pharmacogenomics: How Your DNA Determines Which Medications Work](https://dantelabs.com/blog/pharmacogenomics-how-your-dna-affects-medication.md): Why the same drug works for one person and causes serious side effects in another. What pharmacogenomic reports reveal and how physicians use them. - [The Complete Guide to Whole Genome Sequencing in 2026](https://dantelabs.com/blog/complete-guide-whole-genome-sequencing.md): Everything you need to know: how WGS works, what it costs, what it reveals, who it's for, and how to evaluate providers. The definitive guide. - [The Diagnostic Odyssey: How Whole Genome Sequencing Ends Years of Uncertainty](https://dantelabs.com/blog/diagnostic-odyssey-rare-disease.md): For rare disease patients, the average time to diagnosis is 5–7 years. Here's how WGS is shortening that timeline — sometimes to weeks. - [The Genomics Industry Has a Transparency Problem](https://dantelabs.com/blog/genomics-transparency-problem.md): Data selling, misleading claims, and bankruptcies that put customer DNA at risk. The genomics industry needs higher standards — and consumers deserve to - [What Happens After You Sequence Your Genome?](https://dantelabs.com/blog/what-happens-after-genome-sequencing.md): You ordered a genome test. Your results are in. A practical guide to understanding your reports, sharing with your doctor, and using your genome over time. - [Whole Genome Sequencing vs. Genetic Testing: What's the Difference?](https://dantelabs.com/blog/whole-genome-sequencing-vs-genetic-testing.md): A clinical comparison of WGS and targeted genetic tests — coverage, variants detected, diagnostic yield, and when each makes sense. - [You Deserved Better. Here's What Changed.](https://dantelabs.com/blog/why-we-rebuilt-dante-labs.md): A candid letter from our CEO on what we heard from customers, what changed, and where the company is going next. Not a press release — a direct conversation. - [Your Genome Under GDPR: Why EU Data Protection Is the Gold Standard for Genetic Information](https://dantelabs.com/blog/genome-under-gdpr.md): GDPR treats genetic data as "special category" — the highest protection tier in law. What this means in practice and why jurisdiction matters. - [From Blurry to 4K DNA: Building The Most Complete Genome for the RPE-1 Cell Line](https://dantelabs.com/blog/from-blurry-to-4k-dna-rpe1-genome-rpe-1-genome-assembly.md): Dante Omics AI, together with Rockefeller University, Giunta Lab, and a network of global partners, has assembled the most complete and… - [AI GPU Acceleration in Multiomics: Transforming Genomic Data Analysis | Dante Omics AI](https://dantelabs.com/blog/ai-gpu-acceleration-revolutionizing-multiomics.md): At Dante Omics AI, we proudly present our proprietary multiomics platform, engineered to combine the power of GPU acceleration with… - [Oxford Nanopore vs PacBio: a new era of long-read sequencing](https://dantelabs.com/blog/long-read-sequencing-ont-vs-pacbio.md): Oxford Nanopore vs PacBio: a new era of long-read sequencing. Expert insights on genomics and whole genome sequencing from Dante Labs. - [What is Spatial Transcriptomics? A New Era in Tissue-Level Gene Expression](https://dantelabs.com/blog/spatial-transcriptomics-tissue-analysis.md): Spatial Transcriptomics: How It Changes Tissue Understanding Introduction Spatial transcriptomics is revolutionizing molecular biology and… - [Understanding Panic Disorders: Raising Awareness on International Panic Day](https://dantelabs.com/blog/understanding-panic-disorders-raising-awareness-on-international-panic-day.md): June 18th marks International Panic Day, a day dedicated to raising awareness about the struggles with mental illness, particularly panic… - [Blood Cancer Day: The Crucial Role of Whole Genome Sequencing in Hematology](https://dantelabs.com/blog/blood-cancer-day-the-crucial-role-of-whole-genome-sequencing-in-hematology.md): Blood Cancer Day is a crucial reminder of the battles millions face worldwide and the strides we are making toward better diagnosis and… - [Celebrating Biodiversity: Harnessing the Power of Genomics](https://dantelabs.com/blog/celebrating-biodiversity-harnessing-the-power-of-genomics.md): As we celebrate the International Day of Biological Diversity, it’s essential to reflect on the pressing need for innovative… - [Celebrating International Day of Families: The Role of Whole Genome Sequencing in Informed Family Planning](https://dantelabs.com/blog/celebrating-international-day-of-families-the-role-of-whole-genome.md): As we celebrate International Day of Families, we reflect on the pivotal role that families play in our lives and the importance of… - [Shedding Light on Systemic Lupus Erythematosus: The Role of Whole Genome Sequencing](https://dantelabs.com/blog/shedding-light-on-systemic-lupus-erythematosus-the-role-of-whole.md): As we commemorate World Lupus Day on May 10th, we shine a spotlight on the intricacies of this widespread autoimmune disorder, impacting… - [Knowing about Genetic Testing: Exploring Different Types and the Importance of Whole Genome Sequencing](https://dantelabs.com/blog/knowing-about-genetic-testing-exploring-different-types-and-the.md): Genetic testing has become increasingly prevalent in healthcare, offering valuable insights into an individual’s genetic makeup and… - [Prioritizing Your Health: How Advanced Genomics Can Help You Take Control](https://dantelabs.com/blog/prioritizing-your-health-how-advanced-genomics-can-help-you-take-control.md): As we celebrate World Health Day on April 7th, it’s essential to reflect on the importance of prioritizing our health and well-being.… - [Shaping a Healthier Future on World Obesity Day: The Influence of WGS and the Dante Obesity Panel on Tomorrow's Wellness](https://dantelabs.com/blog/shaping-a-healthier-future-on-world-obesity-day-the-influence-of-wgs.md): As we commemorate World Obesity Day, we want to take time to reflect on the complexities of obesity and the vital role that genetic testing… - [The Importance of Genetic Insights for Kidney Health: The Dante Nephrology Panel](https://dantelabs.com/blog/the-importance-of-genetic-insights-for-kidney-health-the-dante-nephrology-panel.md): As we mark World Kidney Day, a significant moment dedicated to raising awareness about kidney health, we embark on a journey to explore the… - [Understand the Genetic Secrets of Sleep for World Sleep Day: The Role of Whole Genome Sequencing in Wellness](https://dantelabs.com/blog/understand-the-genetic-secrets-of-sleep-for-world-sleep-day-the-role.md): On World Sleep Day, we delve into the essential role that quality sleep plays in our overall well-being, emphasizing the profound impact of… - [Empowering Childhood Cancer Prevention through Whole Genome Sequencing and Hereditary Cancer Panel](https://dantelabs.com/blog/empowering-childhood-cancer-prevention-through-whole-genome-sequencing.md): Every year, on February 15th, the world comes together to observe International Childhood Cancer Day. This day serves as a reminder of the… - [Illuminating Hope: A New Era in Rare Disease Care with Whole Genome Sequencing](https://dantelabs.com/blog/illuminating-hope-a-new-era-in-rare-disease-care-with-whole-genome-sequencing.md): In this Rare Disease Month, we delved into the challenges surrounding rare diseases, from the complexities of diagnosis to the hurdles in… - [Unleashing the Power of Whole Genome Sequencing to Prevent Cancer](https://dantelabs.com/blog/unleashing-the-power-of-whole-genome-sequencing-to-prevent-cancer.md): On World Cancer Day, we join the global fight against this devastating disease by highlighting the revolutionary role that whole genome… - [World Congenital Heart Defect Awareness Day: Shining a Light on Hope and Progress](https://dantelabs.com/blog/world-congenital-heart-defect-awareness-day-shining-a-light-on-hope-and-progress.md): Every year, on February 14th, we come together to raise awareness for World Congenital Heart Defect (CHD) Awareness Day. This significant… - [Opening New Possibilities: The Power of WGS Analysis in Diagnostics of Epilepsy](https://dantelabs.com/blog/opening-new-possibilities-the-power-of-wgs-analysis-in-diagnostics-of-epilepsy.md): Epilepsy – a condition that affects millions worldwide, causing recurrent seizures and significant challenges in daily life. In this… - [The Power of Whole Genome Sequencing in Hypothyroidism: Empowering Prevention and Management](https://dantelabs.com/blog/the-power-of-whole-genome-sequencing-in-hypothyroidism-empowering.md): In recent years, whole genome sequencing (WGS) has emerged as a revolutionary tool in the medical field, offering unprecedented insights… - [Transforming Raw Data into Actionable Insights: The Importance of Bioinformatics in DNA Analysis](https://dantelabs.com/blog/transforming-raw-data-into-actionable-insights-the-importance-of.md): In the world of genetics, there’s one field that plays a pivotal role in unraveling the mysteries of our DNA – bioinformatics.… - [The importance of personalized medicine: how whole genome sequencing analysis leads to personalized diagnosis](https://dantelabs.com/blog/the-importance-of-personalized-medicine-how-whole-genome-sequencing.md): Personalized medicine is revolutionizing the way we deal with diseases and medical conditions. Thanks to Whole Genome Sequencing analysis,… - [Understanding the Genetic Factors Behind Hearing Loss: How Whole Genome Sequencing Can Help](https://dantelabs.com/blog/understanding-the-genetic-factors-behind-hearing-loss-how-whole-genome.md): In recent years, advancements in genetic research have provided us with valuable insights into the role of genes in various health… - [Unlocking the Mysteries of Rare Diseases: WGS and the Osteopetrosis Panel by Dante Labs](https://dantelabs.com/blog/unlocking-the-mysteries-of-rare-diseases-wgs-and-the-osteopetrosis.md): In the vast landscape of genomics, Whole Genome Sequencing (WGS) has emerged as a powerful tool, offering unprecedented insights into the… - [Harnessing the Power of WGS to Enhance Pulmonary Disease Prevention](https://dantelabs.com/blog/harnessing-the-power-of-wgs-to-enhance-pulmonary-disease-prevention.md): On World Pneumonia Day, it is critical to explore innovative approaches to address lung diseases and minimize their impact on global… - [Let's revolutionize diabetes prevention with the WGS and the Diabetes Panel](https://dantelabs.com/blog/lets-revolutionize-diabetes-prevention-with-the-wgs-and-the-diabetes-panel.md): Every year, on November 14th, the world comes together to observe World Diabetes Day. This global awareness campaign aims to shed light on… - [Whole Genome Sequencing for Newborns: A Gift for the Future on World Children's Day](https://dantelabs.com/blog/whole-genome-sequencing-for-newborns-a-gift-for-the-future-on-world.md): World Children’s Day and the importance of their health World Children’s Day is a special occasion to celebrate our youngest citizens… - [Breast Cancer Awareness Month: Empowering Prevention with Whole Genome Sequencing Analysis](https://dantelabs.com/blog/breast-cancer-awareness-month-empowering-prevention-with-whole-genome.md): October is a special month dedicated to breast cancer awareness and prevention. It’s a time when we reflect on the importance of… - [Celebrating World Food Day: How Whole Genome Sequencing and Nutrigenetics Revolutionize Your Relationship with Food](https://dantelabs.com/blog/celebrating-world-food-day-how-whole-genome-sequencing-and.md): World Food Day is a special occasion to reflect on the significance of food in our lives. But today, we want to delve into how genetic… - [Sensory Conditions: A Journey with Whole Genome Sequencing Analysis](https://dantelabs.com/blog/sensory-conditions-a-journey-with-whole-genome-sequencing-analysis.md): Our senses—sight, hearing, touch, taste, and smell—are the windows through which we experience the world. They allow us to connect with our… ## Publications - [Unveiling New Insights: Reinterpreting DES Mutation, p.Arg383His, Through a Study of an Iranian Family With Isolated Hypertrophic Cardiomyopathy, Implication for Phenotype–Genotype Correlation Analysis](https://dantelabs.com/publications/unveiling-new-insights-reinterpreting-des-mutation-p-arg383his-through-a-study-of-an-iranian.md) - [Alport Syndrome–Associated Pathogenic COL4A4 Variant in Sisters With Chronic Kidney Disease: Clinical Findings and Integrative Network Analysis](https://dantelabs.com/publications/alport-syndrome-associated-pathogenic-col4a4-variant-in-sisters-with-chronic-kidney-disease.md) - [Why Should a Genome Be Protected? Ethical, Legal, and Security Challenges in the Protection of Genomic Data](https://dantelabs.com/publications/why-should-a-genome-be-protected-ethical-legal-and-security-challenges-in-the-protection-of.md) - [Liver transcriptome dynamics in Holstein cows during the periparturient transition](https://dantelabs.com/publications/liver-transcriptome-dynamics-in-holstein-cows-during-the-periparturient-transition.md) - [Diversity of Cardinium Endosymbiont Genomes from Plant-Parasitic Nematodes](https://dantelabs.com/publications/diversity-of-cardinium-endosymbiont-genomes-from-plant-parasitic-nematodes.md) - [Description of a Large Family with Periodic Fever Carrying a Variant in RXFP1 Gene: A Possible Novel Modulator of Inflammation in Autoinflammatory Diseases](https://dantelabs.com/publications/description-of-a-large-family-with-periodic-fever-carrying-a-variant-in-rxfp1-gene-a-possible.md) - [Cell line-matched reference enables high-precision functional genomics](https://dantelabs.com/publications/cell-line-matched-reference-enables-high-precision-functional-genomics.md) - [Germline homologous recombination repair (gHRR) variants in bladder cancer: Preliminary evidence and clinical implications](https://dantelabs.com/publications/germline-homologous-recombination-repair-ghrr-variants-in-bladder-cancer-preliminary-evidence.md) - [The reference genome of the human diploid cell line RPE-1](https://dantelabs.com/publications/the-reference-genome-of-the-human-diploid-cell-line-rpe-1.md) - [Transcriptomic profiling of skeletal muscle in the DMDmdx rat model of Duchenne muscular dystrophy](https://dantelabs.com/publications/transcriptomic-profiling-of-skeletal-muscle-in-the-dmdmdx-rat-model-of-duchenne-muscular.md) - [Transcriptome Analysis of TGFBI Knockdown vs Normal Corneal Epithelial Cells: Implications for TGFBI Corneal Dystrophy Treatment](https://dantelabs.com/publications/transcriptome-analysis-of-tgfbi-knockdown-vs-normal-corneal-epithelial-cells-implications-for.md) - [Low-coverage whole genome sequencing for a highly selective cohort of severe COVID-19 patients](https://dantelabs.com/publications/low-coverage-whole-genome-sequencing-for-a-highly-selective-cohort-of-severe-covid-19-patients.md) - [Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature](https://dantelabs.com/publications/lethal-complications-and-complex-genotypes-in-shwachman-diamond-syndrome-report-of-a-family.md) - [A Mutational Hotspot in The LAMP2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c.877C>T Variant: A Descriptive Study](https://dantelabs.com/publications/a-mutational-hotspot-in-the-lamp2-gene-unravelling-intrafamilial-phenotypic-variation-and.md) - [The complete diploid reference genome of RPE-1 identifies human phased epigenetic landscapes](https://dantelabs.com/publications/the-complete-diploid-reference-genome-of-rpe-1-identifies-human-phased-epigenetic-landscapes.md) - [Evolution of Resistance to Irinotecan in Cancer Cells Involves Generation of Topoisomerase-Guided Mutations in Non-Coding Genome That Reduce the Chances of DNA Breaks](https://dantelabs.com/publications/evolution-of-resistance-to-irinotecan-in-cancer-cells-involves-generation-of-topoisomerase.md) - [Genomic evidence for adaptation to tuberculosis in the Andes before European contact](https://dantelabs.com/publications/genomic-evidence-for-adaptation-to-tuberculosis-in-the-andes-before-european-contact.md) - [Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions](https://dantelabs.com/publications/chromosomal-phase-improves-aneuploidy-detection-in-non-invasive-prenatal-testing-at-low-fetal.md) - [A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland](https://dantelabs.com/publications/a-formative-study-of-the-implementation-of-whole-genome-sequencing-in-northern-ireland.md) - [The genomic prehistory of the Indigenous peoples of Uruguay](https://dantelabs.com/publications/the-genomic-prehistory-of-the-indigenous-peoples-of-uruguay.md) - [Symposia — Oral Communications — Late Breaking News](https://dantelabs.com/publications/symposia-oral-communications-late-breaking-news.md) - [A novel Penicillium sumatraense isolate reveals an arsenal of degrading enzymes exploitable in algal bio-refinery processes](https://dantelabs.com/publications/a-novel-penicillium-sumatraense-isolate-reveals-an-arsenal-of-degrading-enzymes-exploitable-in.md) - [Replicate whole-genome next-generation sequencing data derived from Caucasian donor saliva samples](https://dantelabs.com/publications/replicate-whole-genome-next-generation-sequencing-data-derived-from-caucasian-donor-saliva.md) - [The Skeleton in the Closet: Faults and Strengths of Public Versus Private Genetic Biobanks](https://dantelabs.com/publications/the-skeleton-in-the-closet-faults-and-strengths-of-public-versus-private-genetic-biobanks.md) - [Valuable Genomes: Taxonomy and Archetypes of Business Models in Direct-to-Consumer Genetic Testing](https://dantelabs.com/publications/valuable-genomes-taxonomy-and-archetypes-of-business-models-in-direct-to-consumer-genetic.md) ## Optional - [Privacy Policy](https://dantelabs.com/privacy.md): How Dante Labs collects, uses, shares and protects your personal and genetic information under GDPR, CCPA, GIPA and state genomic privacy laws. - [Terms of Service](https://dantelabs.com/terms.md): Dante Labs terms of service. The terms governing your use of our website, products, and genomic services. - [Cookie Policy](https://dantelabs.com/cookie-policy.md): How Dante Labs uses cookies, pixels and tracking on dantelabs.com, including how we protect purchase data and genetic testing status. - [Return Policy](https://dantelabs.com/return-policy.md): Dante Labs return policy. Refunds can be processed up to 14 days after purchase if the sample has not been received by our lab. - [Supplemental Clinical Services Terms](https://dantelabs.com/clinical-services-terms.md): Supplemental Clinical Services Terms - Dante Labs.