MedGene

Personnel

Director: Lucia Minichova, Lab Director
Phone: +421 2 20737474
Fax: +421 2 33016065
Email: genetests@medgene.eu

Conditions and tests

693 conditions/phenotypes with 810 tests
Enter text to narrow down the list

3 beta-Hydroxysteroid dehydrogenase deficiency1 test
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
46,XY sex reversal 11 test
46,XY sex reversal 33 tests
46,XY sex reversal 71 test
Abetalipoproteinaemia1 test
Absence seizure1 test
Achondrogenesis type II1 test
Achondrogenesis, type IB1 test
Acromicric dysplasia1 test
Acute intermittent porphyria1 test
Adrenoleukodystrophy1 test
Adult polyglucosan body disease1 test
ADULT syndrome1 test
Adult-onset proximal spinal muscular atrophy, autosomal dominant2 tests
Aicardi-Goutieres syndrome 11 test
Alagille syndrome due to a JAG1 point mutation1 test
Alagille syndrome due to a NOTCH2 point mutation1 test
alpha Thalassemia1 test
Alpha thalassemia-intellectual disability syndrome type 11 test
Alpha-1-antitrypsin deficiency2 tests
Alzheimer disease 21 test
Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
Amelogenesis imperfecta type 1C1 test
Amelogenesis imperfecta type 2A11 test
Amyloidosis, hereditary systemic 11 test
Amyotrophic lateral sclerosis type 11 test
Amyotrophic lateral sclerosis type 102 tests
Amyotrophic lateral sclerosis type 111 test
Amyotrophic lateral sclerosis type 121 test
Amyotrophic lateral sclerosis type 2, juvenile1 test
Amyotrophic lateral sclerosis type 41 test
Amyotrophic lateral sclerosis type 61 test
Amyotrophic lateral sclerosis type 81 test
Amyotrophic lateral sclerosis type 91 test
Andersen Tawil syndrome2 tests
Angelman syndrome4 tests
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome1 test
Aniridia 12 tests
Anterior segment dysgenesis 11 test
Anterior segment dysgenesis 41 test
Aortic aneurysm, familial thoracic 61 test
Arthrogryposis, distal, type 1A1 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
Atelosteogenesis type I1 test
Atelosteogenesis type II1 test
Atelosteogenesis type III1 test
Atrial fibrillation, familial, 41 test
Atrial fibrillation, familial, 91 test
Autosomal dominant distal renal tubular acidosis1 test
Autosomal dominant hypophosphatemic rickets1 test
Autosomal dominant keratitis1 test
Autosomal dominant nocturnal frontal lobe epilepsy 31 test
Autosomal dominant nonsyndromic hearing loss 111 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 231 test
Autosomal dominant optic atrophy classic form1 test
Autosomal dominant osteopetrosis 11 test
Autosomal dominant Parkinson disease 81 test
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal recessive DOPA responsive dystonia1 test
Autosomal recessive juvenile Parkinson disease 21 test
Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2I1 test
Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
Autosomal recessive limb-girdle muscular dystrophy type 2L1 test
Autosomal recessive limb-girdle muscular dystrophy type 2N1 test
Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
Autosomal recessive multiple pterygium syndrome1 test
Autosomal recessive nonsyndromic hearing loss 1A1 test
Autosomal recessive nonsyndromic hearing loss 1B1 test
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive Parkinson disease 141 test
Autosomal recessive Robinow syndrome1 test
Axenfeld-Rieger syndrome type 11 test
Bannayan-Riley-Ruvalcaba syndrome1 test
Bardet-Biedl syndrome6 tests
Beare-Stevenson cutis gyrata syndrome1 test
Becker muscular dystrophy1 test
Beckwith-Wiedemann syndrome2 tests
Bernard Soulier syndrome3 tests
Bernard-Soulier syndrome, type A2, autosomal dominant1 test
Bilateral frontoparietal polymicrogyria1 test
Boomerang dysplasia1 test
Brachydactyly type B11 test
Brachydactyly type B21 test
Brachyrachia (short spine dysplasia)1 test
Branchiootorenal syndrome 12 tests
Branchiootorenal syndrome 21 test
Breast-ovarian cancer, familial, susceptibility to, 11 test
Breast-ovarian cancer, familial, susceptibility to, 21 test
Breast-ovarian cancer, familial, susceptibility to, 31 test
Brown-Vialetto-van Laere syndrome 11 test
Bruck syndrome 21 test
Brugada syndrome 51 test
Budd-Chiari syndrome1 test
C syndrome1 test
C1 inhibitor deficiency1 test
Café-au-lait macules with pulmonary stenosis1 test
Camptomelic dysplasia1 test
CARASIL syndrome1 test
Cardiofaciocutaneous syndrome 14 tests
Carnitine palmitoyl transferase 1A deficiency1 test
Carnitine palmitoyl transferase II deficiency, myopathic form2 tests
Carotid intimal medial thickness 11 test
Carpal tunnel syndrome1 test
Cataract 11 multiple types2 tests
Cataract 12 multiple types1 test
Cataract 6 multiple types1 test
Cataract 9 multiple types1 test
Central core myopathy1 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
Cerebrooculofacioskeletal syndrome 11 test
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
Charcot-Marie-Tooth disease axonal type 2C1 test
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 1C1 test
Charcot-Marie-Tooth disease type 1D1 test
Charcot-Marie-Tooth disease type 1E1 test
Charcot-Marie-Tooth disease type 1F1 test
Charcot-Marie-Tooth disease type 2A21 test
Charcot-Marie-Tooth disease type 2B11 test
Charcot-Marie-Tooth disease type 4J1 test
Charcot-Marie-Tooth disease X-linked dominant 11 test
Charcot-Marie-Tooth disease, type IA1 test
CHARGE syndrome1 test
Chilblain lupus 11 test
Childhood onset GLUT1 deficiency syndrome 21 test
Cholestanol storage disease1 test
Cholestasis, intrahepatic, of pregnancy, 31 test
Chondrodysplasia punctata 2 X-linked dominant1 test
Choroideremia1 test
Christianson syndrome1 test
Chronic infantile neurological, cutaneous and articular syndrome2 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Cockayne syndrome type 11 test
Cockayne syndrome type 23 tests
Cohen syndrome1 test
Coloboma of optic nerve1 test
Colorectal cancer, hereditary nonpolyposis, type 21 test
Cone-rod dystrophy 61 test
Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
Congenital central hypoventilation1 test
Congenital muscular dystrophy due to LMNA mutation1 test
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myasthenic syndrome 161 test
Congenital myasthenic syndrome 4C2 tests
Congenital myopathy 231 test
Congenital myotonia, autosomal dominant form1 test
Congenital myotonia, autosomal recessive form1 test
Congenital ocular coloboma1 test
Congenital prothrombin deficiency1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Corpus callosum agenesis-abnormal genitalia syndrome1 test
Costello syndrome2 tests
Cowden syndrome 11 test
Craniofacial-deafness-hand syndrome1 test
Crouzon syndrome1 test
Currarino triad1 test
Cushing syndrome1 test
Cutaneous porphyria1 test
Cystic fibrosis1 test
Cystinuria1 test
Danon disease1 test
Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
Deficiency of iodide peroxidase1 test
Deficiency of steroid 11-beta-monooxygenase1 test
Deficiency of steroid 17-alpha-monooxygenase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Dent disease type 21 test
Developmental and epileptic encephalopathy, 12 tests
Developmental and epileptic encephalopathy, 111 test
Developmental and epileptic encephalopathy, 22 tests
Developmental and epileptic encephalopathy, 51 test
Developmental and epileptic encephalopathy, 71 test
Developmental and epileptic encephalopathy, 91 test
Diabetes mellitus, ketosis-prone1 test
Diastrophic dysplasia1 test
DiGeorge syndrome1 test
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 3B1 test
Distal arthrogryposis type 2B14 tests
Distal myopathy, Tateyama type1 test
Dominant beta-thalassemia1 test
Drash syndrome1 test
Duane-radial ray syndrome1 test
Duchenne muscular dystrophy1 test
Dystonia 51 test
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant2 tests
Ectodermal dysplasia and immunodeficiency 11 test
Ectodermal dysplasia and immunodeficiency 21 test
Ectopia lentis 1, isolated, autosomal dominant1 test
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 32 tests
Ehlers-Danlos syndrome, arthrochalasia type2 tests
Ehlers-Danlos syndrome, classic type4 tests
Ehlers-Danlos syndrome, dermatosparaxis type1 test
Ehlers-Danlos syndrome, type 31 test
Ehlers-Danlos syndrome, type 41 test
Elevated circulating creatine kinase concentration1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
Encephalopathy due to GLUT1 deficiency1 test
Epilepsy, childhood absence, susceptibility to, 11 test
Epilepsy, familial temporal lobe, 11 test
Epilepsy, idiopathic generalized, susceptibility to, 102 tests
Epilepsy, idiopathic generalized, susceptibility to, 112 tests
Epilepsy, idiopathic generalized, susceptibility to, 131 test
Epilepsy, idiopathic generalized, susceptibility to, 81 test
Epilepsy, idiopathic generalized, susceptibility to, 91 test
Epiphyseal dysplasia, multiple, 21 test
Epiphyseal dysplasia, multiple, 31 test
Epiphyseal dysplasia, multiple, 61 test
Episodic ataxia type 11 test
Episodic ataxia type 22 tests
Episodic ataxia type 51 test
Episodic kinesigenic dyskinesia 11 test
Exudative vitreoretinopathy 11 test
Exudative vitreoretinopathy 41 test
Fabry disease1 test
Facioscapulohumeral muscular dystrophy 11 test
Factor V deficiency1 test
Factor VII deficiency1 test
Factor X deficiency1 test
Factor XII deficiency disease1 test
Familial adenomatous polyposis 11 test
Familial adenomatous polyposis 21 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial aplasia of the vermis1 test
Familial benign pemphigus1 test
Familial cancer of breast1 test
Familial cold autoinflammatory syndrome 11 test
Familial colorectal cancer1 test
Familial digital arthropathy-brachydactyly1 test
Familial dysautonomia1 test
Familial hemophagocytic lymphohistiocytosis 21 test
Familial hemophagocytic lymphohistiocytosis 31 test
Familial hemophagocytic lymphohistiocytosis 41 test
Familial hemophagocytic lymphohistiocytosis 51 test
Familial hyperkalemic periodic paralysis1 test
Familial hypocalciuric hypercalcemia 11 test
Familial hypoparathyroidism3 tests
Familial infantile myasthenia1 test
Familial isolated deficiency of vitamin E1 test
Familial juvenile hyperuricemic nephropathy type 13 tests
Familial Mediterranean fever1 test
Familial medullary thyroid carcinoma2 tests
Familial partial lipodystrophy, Dunnigan type1 test
Familial visceral amyloidosis, Ostertag type1 test
Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
Febrile seizures, familial, 82 tests
Fetal akinesia deformation sequence 11 test
FG syndrome 11 test
Fibromatosis, gingival, 11 test
Fibrous dysplasia of jaw1 test
Finnish congenital nephrotic syndrome1 test
Foveal hypoplasia 11 test
Fragile X syndrome1 test
Frank-Ter Haar syndrome1 test
Frasier syndrome1 test
FRAXE1 test
Freeman-Sheldon syndrome1 test
Frontotemporal dementia2 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 61 test
Fuhrmann syndrome1 test
Fumarase deficiency2 tests
Galactosylceramide beta-galactosidase deficiency1 test
Geleophysic dysplasia 21 test
Generalized epilepsy with febrile seizures plus, type 13 tests
Generalized epilepsy with febrile seizures plus, type 21 test
Generalized epilepsy with febrile seizures plus, type 72 tests
Giant axonal neuropathy 11 test
Gilbert syndrome1 test
Gillespie syndrome1 test
Glanzmann thrombasthenia1 test
Glaucoma 3A1 test
Glucocorticoid-remediable aldosteronism1 test
Glycogen storage disease, type II1 test
Glycogen storage disease, type IV1 test
Glycogen storage disease, type V1 test
GM1 gangliosidosis type 21 test
GM1 gangliosidosis type 31 test
Gorlin syndrome1 test
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
Hajdu-Cheney syndrome1 test
Hallermann-Streiff syndrome1 test
Hb SS disease1 test
Hemochromatosis type 11 test
Hemochromatosis type 31 test
Hepatitis C virus, susceptibility to1 test
Hereditary angioedema type 11 test
Hereditary angioedema type 31 test
Hereditary coproporphyria1 test
Hereditary diffuse gastric adenocarcinoma1 test
Hereditary diffuse leukoencephalopathy with spheroids1 test
Hereditary factor I deficiency disease6 tests
Hereditary factor XI deficiency disease1 test
Hereditary fructosuria2 tests
Hereditary hyperferritinemia with congenital cataracts1 test
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary liability to pressure palsies1 test
Hereditary pancreatitis2 tests
Hereditary sensory and autonomic neuropathy type 11 test
Hereditary spastic paraplegia 111 test
Hereditary spastic paraplegia 21 test
Hereditary spastic paraplegia 3A2 tests
Hereditary spastic paraplegia 41 test
Hereditary spastic paraplegia 71 test
Hereditary spherocytosis type 41 test
Hermansky-Pudlak syndrome 11 test
Hermansky-Pudlak syndrome 21 test
Hermansky-Pudlak syndrome 31 test
Hermansky-Pudlak syndrome 41 test
Hermansky-Pudlak syndrome 71 test
Holoprosencephaly 31 test
Holoprosencephaly 41 test
Holoprosencephaly 71 test
Holt-Oram syndrome1 test
Hutchinson-Gilford syndrome1 test
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1 test
Hypercalcemia, infantile, 11 test
Hypercholesterolemia, autosomal dominant, type B1 test
Hypercholesterolemia, familial, 11 test
Hyperekplexia 11 test
Hyperekplexia 21 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperinsulinemic hypoglycemia, familial, 21 test
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperinsulinism due to glucokinase deficiency1 test
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
Hyperthyroxinemia, dystransthyretinemic1 test
Hypertrophic cardiomyopathy 11 test
Hypochondroplasia1 test
Hypogonadotropic hypogonadism 1 with or without anosmia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia1 test
Hypogonadotropic hypogonadism 3 with or without anosmia1 test
Hypogonadotropic hypogonadism 4 with or without anosmia1 test
Hypogonadotropic hypogonadism 5 with or without anosmia1 test
Hypogonadotropic hypogonadism 6 with or without anosmia1 test
Hypohidrotic X-linked ectodermal dysplasia1 test
Hypokalemic periodic paralysis, type 12 tests
Hypokalemic periodic paralysis, type 21 test
Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
IMAGe syndrome1 test
Immunodeficiency 331 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
Incontinentia pigmenti syndrome1 test
Infantile convulsions and choreoathetosis1 test
Infantile cortical hyperostosis1 test
Infantile GM1 gangliosidosis1 test
Infantile hypophosphatasia1 test
Infantile neuroaxonal dystrophy1 test
Infantile onset spinocerebellar ataxia2 tests
Infantile-onset ascending hereditary spastic paralysis1 test
Inherited susceptibility to asthma1 test
Irido-corneo-trabecular dysgenesis4 tests
Isolated focal cortical dysplasia type II1 test
Isolated growth hormone deficiency type IB1 test
Isolated optic nerve hypoplasia1 test
Jackson-Weiss syndrome2 tests
Jervell and Lange-Nielsen syndrome 21 test
Juvenile myoclonic epilepsy1 test
Juvenile primary lateral sclerosis1 test
Juvenile retinoschisis1 test
Kartagener syndrome1 test
Keutel syndrome1 test
Kniest dysplasia1 test
Lafora disease2 tests
Langer mesomelic dysplasia syndrome1 test
Laron-type isolated somatotropin defect1 test
Larsen syndrome1 test
Leber congenital amaurosis 11 test
Leber optic atrophy1 test
Legg-Calve-Perthes disease1 test
Legius syndrome1 test
Leigh syndrome2 tests
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
LEOPARD syndrome 31 test
Leri-Weill dyschondrosteosis1 test
Lethal multiple pterygium syndrome1 test
Lethal tight skin contracture syndrome1 test
Leukocyte adhesion deficiency 11 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
Li-Fraumeni syndrome 11 test
Limb-mammary syndrome1 test
Linear nevus sebaceous syndrome1 test
Lissencephaly due to LIS1 mutation1 test
Lissencephaly due to TUBA1A mutation1 test
Lissencephaly type 1 due to doublecortin gene mutation1 test
Loeys-Dietz syndrome 12 tests
Loeys-Dietz syndrome 22 tests
Long QT syndrome 21 test
Long QT syndrome 51 test
Long QT syndrome 61 test
Long QT syndrome 91 test
Low phospholipid associated cholelithiasis1 test
Lowe syndrome1 test
Lymphangiomyomatosis1 test
Lynch syndrome 11 test
Lynch syndrome 51 test
Macrocephaly and epileptic encephalopathy1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss4 tests
Malignant hyperthermia, susceptibility to, 11 test
Mannose-binding lectin deficiency1 test
Maple syrup urine disease3 tests
Marfan syndrome1 test
Marinesco-Sjögren syndrome1 test
MASA syndrome3 tests
MASS syndrome1 test
Maturity-onset diabetes of the young type 11 test
Maturity-onset diabetes of the young type 101 test
Maturity-onset diabetes of the young type 111 test
Maturity-onset diabetes of the young type 22 tests
Maturity-onset diabetes of the young type 31 test
Maturity-onset diabetes of the young type 41 test
Maturity-onset diabetes of the young type 61 test
Maturity-onset diabetes of the young type 71 test
Maturity-onset diabetes of the young type 81 test
Maturity-onset diabetes of the young type 91 test
McCune-Albright syndrome1 test
Meacham syndrome1 test
Meckel syndrome, type 11 test
Megalencephalic leukoencephalopathy with subcortical cysts 11 test
Melanoma, cutaneous malignant, susceptibility to, 11 test
MERRF syndrome1 test
Metachondromatosis1 test
Metachromatic leukodystrophy1 test
Metatropic dysplasia1 test
Methylmalonic aciduria and homocystinuria type cblF1 test
Mevalonic aciduria1 test
Microcephaly 6, primary, autosomal recessive1 test
Migraine, familial hemiplegic, 31 test
Miller Dieker syndrome2 tests
Miller syndrome1 test
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
Miyoshi muscular dystrophy 11 test
MORM syndrome1 test
Mowat-Wilson syndrome1 test
Mucopolysaccharidosis, MPS-I-H/S1 test
Mucopolysaccharidosis, MPS-III-B1 test
Mucopolysaccharidosis, MPS-IV-A1 test
Mucopolysaccharidosis, MPS-IV-B1 test
Muenke syndrome1 test
Mulibrey nanism syndrome1 test
Multiple endocrine neoplasia type 2A1 test
Multiple endocrine neoplasia type 2B1 test
Multiple endocrine neoplasia, type 11 test
Multiple epiphyseal dysplasia type 11 test
Multiple epiphyseal dysplasia type 41 test
Multiple epiphyseal dysplasia type 51 test
Multiple epiphyseal dysplasia, Beighton type1 test
Muscle eye brain disease1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B11 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31 test
Muscular dystrophy-dystroglycanopathy type B51 test
Myasthenia gravis1 test
Myasthenic syndrome, congenital, 1B, fast-channel2 tests
Myoclonic dystonia 111 test
Myofibrillar myopathy 33 tests
Namaqualand hip dysplasia1 test
NARP syndrome1 test
Neonatal severe primary hyperparathyroidism1 test
Nephrotic syndrome, type 41 test
Neural tube defect3 tests
Neurodegeneration with brain iron accumulation 2B2 tests
Neuroferritinopathy1 test
Neurofibromatosis, type 11 test
Neurofibromatosis, type 21 test
Neuronal ceroid lipofuscinosis 111 test
Neuropathy, hereditary sensory and autonomic, type 2A1 test
Niemann-Pick disease, type C11 test
Niemann-Pick disease, type C21 test
Nonpersistence of intestinal lactase1 test
Noonan syndrome 11 test
Noonan syndrome 31 test
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 61 test
Noonan syndrome 71 test
Norman-Roberts syndrome1 test
Obesity7 tests
OBESITY (BMIQ9), SUSCEPTIBILITY TO1 test
Obesity due to leptin receptor gene deficiency1 test
Obesity due to pro-opiomelanocortin deficiency1 test
Obesity due to prohormone convertase I deficiency1 test
Ocular albinism with congenital sensorineural hearing loss1 test
Oculocutaneous albinism type 1B1 test
Oculodentodigital dysplasia1 test
Oculootoradial syndrome1 test
Odonto-onycho-dermal dysplasia1 test
Oligodontia-cancer predisposition syndrome1 test
Orofacial cleft 51 test
Orofacial cleft 6, susceptibility to1 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta with normal sclerae, dominant form1 test
Osteogenesis imperfecta, perinatal lethal1 test
Osteoglophonic dysplasia1 test
Otofaciocervical syndrome 11 test
Otospondylomegaepiphyseal dysplasia, autosomal recessive1 test
Pancreatic agenesis 11 test
Paramyotonia congenita of Von Eulenburg1 test
Parastremmatic dwarfism1 test
Paroxysmal extreme pain disorder1 test
Paroxysmal nonkinesigenic dyskinesia 11 test
Partington syndrome1 test
Pelizaeus-Merzbacher disease1 test
Permanent neonatal diabetes mellitus3 tests
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Peroxisome biogenesis disorder 1B1 test
Peroxisome biogenesis disorder 3A (Zellweger)1 test
Peroxisome biogenesis disorder 9B1 test
Persistent Mullerian duct syndrome1 test
Peters plus syndrome1 test
Peutz-Jeghers syndrome1 test
Pfeiffer syndrome2 tests
Pheochromocytoma1 test
Phytanic acid storage disease1 test
Pick disease1 test
Pigmentary pallidal degeneration1 test
Pitt-Hopkins syndrome1 test
Pituitary hormone deficiency, combined, 11 test
Pituitary hormone deficiency, combined, 21 test
Platyspondylic dysplasia, Torrance type1 test
Pontocerebellar hypoplasia type 1A1 test
Popliteal pterygium syndrome1 test
Porokeratosis 3, disseminated superficial actinic type1 test
PPARG-related familial partial lipodystrophy2 tests
Prader-Willi syndrome1 test
Primary ciliary dyskinesia 31 test
Primary erythromelalgia2 tests
Primary familial polycythemia due to EPO receptor mutation1 test
Primary hyperoxaluria, type I1 test
Primary open angle glaucoma1 test
Progressive bulbar palsy of childhood1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
Progressive familial intrahepatic cholestasis type 31 test
Progressive osseous heteroplasia1 test
Progressive pseudorheumatoid dysplasia1 test
Progressive sclerosing poliodystrophy4 tests
Progressive supranuclear ophthalmoplegia1 test
Propionic acidemia2 tests
Proximal symphalangism 1A1 test
Pseudo von Willebrand disease1 test
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
Pseudohypoaldosteronism type 2C1 test
Pseudohypoparathyroidism1 test
Pseudohypoparathyroidism type 1B1 test
Pseudohypoparathyroidism type 1C1 test
Pseudopseudohypoparathyroidism1 test
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy1 test
Rapp-Hodgkin syndrome1 test
Renal cysts and diabetes syndrome1 test
Renal hypodysplasia/aplasia 11 test
Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
Retinitis pigmentosa 11 test
Retinitis pigmentosa 131 test
Retinitis pigmentosa 141 test
Retinitis pigmentosa 181 test
Retinitis pigmentosa 31 test
Retinitis pigmentosa 41 test
Rett syndrome1 test
Rhabdoid tumor predisposition syndrome 21 test
Rhizomelic chondrodysplasia punctata type 11 test
Rhizomelic chondrodysplasia punctata type 21 test
Rippling muscle disease 22 tests
Roussy-Lévy syndrome1 test
Rubinstein-Taybi syndrome due to CREBBP mutations1 test
Sandhoff disease1 test
Scapuloperoneal spinal muscular atrophy1 test
SchC6pf-Schulz-Passarge syndrome1 test
Schinzel phocomelia syndrome1 test
Schwannomatosis 11 test
Seckel syndrome 41 test
Seizures, benign familial infantile, 21 test
Seizures, benign familial infantile, 31 test
Seizures, benign familial neonatal, 11 test
Seizures, benign familial neonatal, 21 test
Septo-optic dysplasia sequence2 tests
Severe myoclonic epilepsy in infancy2 tests
Short QT syndrome type 11 test
Short QT syndrome type 31 test
Short stature due to partial GHR deficiency2 tests
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
SHOX-related short stature1 test
Silver-Russell syndrome 11 test
Simpson-Golabi-Behmel syndrome type 11 test
Smith-Lemli-Opitz syndrome1 test
Smith-Magenis syndrome1 test
Sotos syndrome1 test
Spinocerebellar ataxia type 111 test
Spinocerebellar ataxia type 131 test
Spinocerebellar ataxia type 142 tests
Spinocerebellar ataxia type 19/221 test
Spinocerebellar ataxia type 231 test
Spinocerebellar ataxia type 271 test
Spinocerebellar ataxia type 281 test
Spinocerebellar ataxia type 51 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22 tests
Spondylocarpotarsal synostosis syndrome1 test
Spondyloepimetaphyseal dysplasia, Maroteaux type1 test
Spondyloepimetaphyseal dysplasia, matrilin-3 type1 test
Spondyloepiphyseal dysplasia congenita1 test
Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
Spondyloepiphyseal dysplasia with metatarsal shortening1 test
Spondylometaphyseal dysplasia1 test
Spondylometaphyseal dysplasia, Kozlowski type1 test
Spondyloperipheral dysplasia1 test
Stapes ankylosis with broad thumbs and toes1 test
Stickler syndrome type 11 test
Stickler syndrome, type I, nonsyndromic ocular1 test
Stiff skin syndrome1 test
Stuve-Wiedemann syndrome1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Symmetrical dyschromatosis of extremities1 test
Symphalangism-brachydactyly syndrome1 test
Syndactyly type 31 test
Syndromic X-linked intellectual disability Nascimento type1 test
Tarsal-carpal coalition syndrome1 test
Tay-Sachs disease1 test
Telangiectasia, hereditary hemorrhagic, type 11 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Tetralogy of Fallot1 test
Thanatophoric dysplasia type 11 test
Thiopurine S-methyltransferase deficiency1 test
Thrombocythemia 31 test
Thrombocytopenia 11 test
Thyroid dyshormonogenesis 11 test
Thyroid hormone resistance, generalized, autosomal dominant1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tooth agenesis, selective, 11 test
Tooth agenesis, selective, 31 test
Tooth agenesis, selective, 41 test
Tourette syndrome1 test
Townes-Brocks syndrome 11 test
Treacher Collins syndrome 11 test
Tremor, hereditary essential, 41 test
Trichorhinophalangeal dysplasia type I2 tests
Trichorhinophalangeal syndrome, type III2 tests
Trichotillomania1 test
Trigeminal neuralgia1 test
Troyer syndrome2 tests
Tuberous sclerosis 12 tests
Tumoral calcinosis, hyperphosphatemic, familial, 11 test
Type 1 diabetes mellitus 21 test
Type 1 diabetes mellitus 201 test
Type 2 diabetes mellitus3 tests
Tyrosinase-negative oculocutaneous albinism1 test
Tyrosinase-positive oculocutaneous albinism1 test
Ulnar-mammary syndrome1 test
Unverricht-Lundborg syndrome1 test
Usher syndrome type 11 test
UV-sensitive syndrome 21 test
VACTERL with hydrocephalus1 test
Van Buchem disease type 21 test
Van der Woude syndrome 11 test
Velocardiofacial syndrome1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Vitamin D-dependent rickets type II with alopecia1 test
Vitamin D-dependent rickets, type 11 test
Von Hippel-Lindau syndrome1 test
Waardenburg syndrome type 11 test
Waardenburg syndrome type 31 test
Weaver syndrome1 test
Weill-Marchesani syndrome 2, dominant1 test
Werdnig-Hoffmann disease1 test
Williams syndrome1 test
Wilms tumor 11 test
Wilson disease1 test
Wiskott-Aldrich syndrome1 test
Worth disease1 test
X-linked agammaglobulinemia1 test
X-linked agammaglobulinemia with growth hormone deficiency1 test
X-linked chondrodysplasia punctata 11 test
X-linked hydrocephalus syndrome1 test
X-linked intellectual disability with marfanoid habitus1 test
X-linked lissencephaly with abnormal genitalia2 tests
X-linked Opitz G/BBB syndrome1 test
X-linked severe congenital neutropenia1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Genetic counseling
Mutation Confirmation
Whole Exome Sequencing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.