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GTR Home > Laboratories > MedGene

MedGene

GTR Lab ID: 320534, Last updated:2021-03-18
Annual Review past due read more

Personnel

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

Conditions and tests

  • 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
  • Amyloidogenic transthyretin amyloidosis1 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
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy2 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 association1 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
  • Czech dysplasia, metatarsal type1 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, arthrochalasis 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
  • 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 thyroid dyshormonogenesis 11 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 11 test
  • Multiple endocrine neoplasia, type 2a1 test
  • Multiple endocrine neoplasia, type 2b1 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, recessive 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 ectodermal dysplasia 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
  • 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 methyltransferase deficiency1 test
  • Thrombocythemia 31 test
  • Thrombocytopenia 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.