GTR Home > Laboratories > GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

GTR Lab ID: 500045
Last updated: 2014-05-29

General information

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Personnel

Conditions and tests

  • 21-hydroxylase deficiency3 tests
  • 3 Methylcrotonyl-CoA carboxylase 1 deficiency1 test
  • 3 beta-Hydroxysteroid dehydrogenase deficiency1 test
  • 3-Methylglutaconic aciduria1 test
  • 3-Methylglutaconic aciduria type 21 test
  • 3-methylcrotonyl CoA carboxylase 2 deficiency1 test
  • 46,XX sex reversal, type 12 tests
  • 46,XY sex reversal, type 12 tests
  • 4p partial monosomy syndrome1 test
  • AML - Acute myeloid leukemia2 tests
  • Aarskog syndrome1 test
  • Aase syndrome1 test
  • Abetalipoproteinaemia1 test
  • Achondrogenesis type 21 test
  • Achondrogenesis, type IB2 tests
  • Achondroplasia1 test
  • Acrocephalosyndactyly type I2 tests
  • Acute intermittent porphyria1 test
  • Acute neuronopathic Gaucher's disease2 tests
  • Adenomatous polyposis coli3 tests
  • Adolescent nephronophthisis1 test
  • Adrenocortical carcinoma, hereditary1 test
  • Adrenoleukodystrophy2 tests
  • Adult onset ataxia with oculomotor apraxia1 test
  • Aicardi Goutieres syndrome 11 test
  • Aicardi Goutieres syndrome 21 test
  • Aicardi Goutieres syndrome 31 test
  • Aicardi Goutieres syndrome 41 test
  • Alagille syndrome 13 tests
  • Alexander's disease1 test
  • Alpha-1-antitrypsin deficiency1 test
  • Alport syndrome, X-linked recessive1 test
  • Alternating hemiplegia of childhood 21 test
  • Alzheimer disease, type 24 tests
  • Alzheimer disease, type 35 tests
  • Alzheimer disease, type 45 tests
  • Alzheimer's disease4 tests
  • Amyloidogenic transthyretin amyloidosis1 test
  • Amyotrophic lateral sclerosis type 12 tests
  • Amyotrophic lateral sclerosis type 91 test
  • Androgen resistance syndrome1 test
  • Angelman syndrome1 test
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps1 test
  • Antithrombin III deficiency1 test
  • Aortic aneurysm, familial thoracic 61 test
  • Arterial tortuosity syndrome1 test
  • Arthrogryposis multiplex congenita distal type 13 tests
  • Ataxia-telangiectasia syndrome1 test
  • Ateleiotic dwarfism2 tests
  • Atelosteogenesis type 11 test
  • Atelosteogenesis type 21 test
  • Atelosteogenesis type 31 test
  • Atypical hemolytic-uremic syndrome 11 test
  • Atypical hemolytic-uremic syndrome 22 tests
  • Autosomal dominant hypohidrotic ectodermal dysplasia1 test
  • Autosomal dominant hypophosphatemic rickets2 tests
  • Autosomal dominant isolated somatotropin deficiency2 tests
  • Autosomal recessive congenital ichthyosis 11 test
  • Autosomal recessive congenital ichthyosis 21 test
  • Autosomal recessive hypohidrotic ectodermal dysplasia syndrome1 test
  • Autosomal recessive hypophosphatemic bone disease1 test
  • Azorean disease3 tests
  • Bannayan-Riley-Ruvalcaba syndrome1 test
  • Bardet-Biedl syndrome1 test
  • Bartter syndrome antenatal type 22 tests
  • Bartter syndrome type 41 test
  • Becker muscular dystrophy3 tests
  • Beckwith-Wiedemann syndrome1 test
  • Benign familial neonatal seizures 11 test
  • Benign familial neonatal seizures 21 test
  • Benign hereditary chorea1 test
  • Benign recurrent intrahepatic cholestasis 11 test
  • Benign recurrent intrahepatic cholestasis 21 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy2 tests
  • Blau syndrome2 tests
  • Blepharophimosis, ptosis, and epicanthus inversus1 test
  • Breast-ovarian cancer, familial 17 tests
  • Breast-ovarian cancer, familial 27 tests
  • Bruck syndrome 21 test
  • Brugada syndrome 11 test
  • Brugada syndrome 21 test
  • Bulbo-spinal atrophy X-linked1 test
  • C syndrome1 test
  • CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET2 tests
  • CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL2 tests
  • CHARGE association1 test
  • Camptomelic dysplasia1 test
  • Capillary malformation-arteriovenous malformation1 test
  • Cardio-facio-cutaneous syndrome1 test
  • Cardiofaciocutaneous syndrome 31 test
  • Carney complex, type 11 test
  • Carnitine palmitoyltransferase II deficiency, infantile2 tests
  • Catecholaminergic polymorphic ventricular tachycardia1 test
  • Central core disease1 test
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy3 tests
  • Cerebral cavernous malformation3 tests
  • Cerebral cavernous malformations 21 test
  • Cerebral cavernous malformations 31 test
  • Ceroid lipofuscinosis neuronal 12 tests
  • Ceroid lipofuscinosis neuronal 101 test
  • Ceroid lipofuscinosis neuronal 61 test
  • Ceroid lipofuscinosis neuronal 71 test
  • Ceroid lipofuscinosis, neuronal, 21 test
  • Charcot-Marie-Tooth disease dominant intermediate 32 tests
  • Charcot-Marie-Tooth disease type 2B11 test
  • Charcot-Marie-Tooth disease type 2C1 test
  • Charcot-Marie-Tooth disease type 2D1 test
  • Charcot-Marie-Tooth disease type 2H1 test
  • Charcot-Marie-Tooth disease type 2I2 tests
  • Charcot-Marie-Tooth disease type 2J2 tests
  • Charcot-Marie-Tooth disease type 2K1 test
  • Charcot-Marie-Tooth disease, recessive intermediate A1 test
  • Charcot-Marie-Tooth disease, type 2A22 tests
  • Charcot-Marie-Tooth disease, type 4A1 test
  • Charcot-Marie-Tooth disease, type 4C1 test
  • Charcot-Marie-Tooth disease, type IA2 tests
  • Charcot-Marie-Tooth disease, type IB2 tests
  • Charcot-Marie-Tooth disease, type ID1 test
  • Charcot-Marie-Tooth disease, type IE2 tests
  • Cholestanol storage disease1 test
  • Chondroectodermal dysplasia1 test
  • Chronic granulomatous disease, X-linked1 test
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 11 test
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 21 test
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Ciliary dyskinesia, primary, 31 test
  • Citrullinemia type I2 tests
  • Citrullinemia type II2 tests
  • Cockayne syndrome, type B1 test
  • Coffin-Lowry syndrome1 test
  • Cohen syndrome1 test
  • Cold-induced sweating syndrome 11 test
  • Complete trisomy 21 syndrome test
  • Cone-rod dystrophy 21 test
  • Cone-rod dystrophy, X-linked 11 test
  • Congenital Cataracts, Facial Dysmorphism, and Neuropathy1 test
  • Congenital adrenal hypoplasia, X-linked2 tests
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital aniridia1 test
  • Congenital central hypoventilation2 tests
  • Congenital chromosomal disease4 tests
  • Congenital contractural arachnodactyly1 test
  • Congenital cystic disease of liver2 tests
  • Congenital generalized lipodystrophy type 11 test
  • Congenital hypomyelinating neuropathy1 test
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B51 test
  • Congenital muscular hypertrophy-cerebral syndrome1 test
  • Congenital myotonia, autosomal dominant form1 test
  • Cornelia de Lange syndrome 11 test
  • Corticosterone methyloxidase type 1 deficiency1 test
  • Corticosterone methyloxidase type 2 deficiency1 test
  • Costello syndrome2 tests
  • Cowden syndrome1 test
  • Crigler-Najjar syndrome1 test
  • Crigler-Najjar syndrome, type II1 test
  • Crouzon syndrome1 test
  • Currarino triad1 test
  • Cutaneous malignant melanoma 21 test
  • Cutaneous malignant melanoma 31 test
  • Cutis Gyrata syndrome of Beare and Stevenson2 tests
  • Cutis laxa, autosomal dominant2 tests
  • Cystic fibrosis3 tests
  • Cystinosis1 test
  • Cystinosis, ocular nonnephropathic1 test
  • Danon disease1 test
  • Deafness, X-linked 21 test
  • Deafness, autosomal dominant 3a3 tests
  • Deafness, autosomal recessive 1A4 tests
  • Deafness, autosomal recessive 1b1 test
  • Deafness, autosomal recessive 591 test
  • Deafness, autosomal recessive 92 tests
  • Deafness, nonsyndromic sensorineural, mitochondrial3 tests
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of iodide peroxidase1 test
  • Deficiency of steroid 11-beta-monooxygenase1 test
  • Dejerine-Sottas disease5 tests
  • Dent disease 11 test
  • Dent disease 21 test
  • Dentatorubral pallidoluysian atrophy1 test
  • Dermatitis, atopic, 21 test
  • DiGeorge sequence1 test
  • Diabetes mellitus AND insipidus with optic atrophy AND deafness2 tests
  • Diabetes mellitus type 21 test
  • Diabetes-deafness syndrome maternally transmitted2 tests
  • Diamond-Blackfan anemia3 tests
  • Diamond-Blackfan anemia 101 test
  • Diamond-Blackfan anemia 31 test
  • Diamond-Blackfan anemia 51 test
  • Diamond-Blackfan anemia 71 test
  • Diamond-Blackfan anemia 81 test
  • Diamond-Blackfan anemia 91 test
  • Diastrophic dysplasia2 tests
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Dilated cardiomyopathy 1A1 test
  • Dilated cardiomyopathy 1G1 test
  • Disorder due cytochrome p450 CYP2D6 variant1 test
  • Distal arthrogryposis type 2B3 tests
  • Distal hereditary motor neuronopathy type 52 tests
  • Distichiasis-lymphedema syndrome1 test
  • Dominant hereditary optic atrophy1 test
  • Duane syndrome type 21 test
  • Duchenne muscular dystrophy3 tests
  • Dyskeratosis congenita, autosomal dominant, 31 test
  • Dystonia 11 test
  • Dystonia 101 test
  • Dystonia 121 test
  • Dystonia 5, Dopa-responsive type1 test
  • Dystonia 6, torsion1 test
  • Early infantile epileptic encephalopathy 21 test
  • Early infantile epileptic encephalopathy 91 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 31 test
  • Efavirenz, poor metabolism of1 test
  • Ehlers-Danlos syndrome, type 31 test
  • Ehlers-Danlos syndrome, type 42 tests
  • Emery-Dreifuss muscular dystrophy 1, X-linked1 test
  • Endometrial carcinoma1 test
  • Endplate acetylcholinesterase deficiency1 test
  • Epidermolysis bullosa herpetiformis, Dowling-Meara1 test
  • Epidermolysis bullosa simplex, Cockayne-Touraine type1 test
  • Epidermolysis bullosa simplex, Koebner type1 test
  • Epilepsy, lateral temporal lobe, autosomal dominant1 test
  • Epilepsy, nocturnal frontal lobe, type 11 test
  • Epilepsy, progressive myoclonic 4, with or without renal failure1 test
  • Epileptic encephalopathy, early infantile, 11 test
  • Episodic ataxia type 11 test
  • Episodic ataxia type 21 test
  • Epstein syndrome1 test
  • Essential hypertension1 test
  • Exudative vitreoretinopathy 41 test
  • FRAXE1 test
  • Fabry's disease1 test
  • Factor VII deficiency1 test
  • Familial Mediterranean fever3 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial benign hypercalcemia1 test
  • Familial cancer of breast8 tests
  • Familial colorectal cancer1 test
  • Familial dysautonomia1 test
  • Familial erythrocytosis, 11 test
  • Familial exudative vitreoretinopathy1 test
  • Familial febrile seizures 81 test
  • Familial hemiplegic migraine type 11 test
  • Familial hemiplegic migraine type 21 test
  • Familial hemiplegic migraine type 31 test
  • Familial hypercholesterolemia1 test
  • Familial hypertrophic cardiomyopathy 12 tests
  • Familial hypertrophic cardiomyopathy 101 test
  • Familial hypertrophic cardiomyopathy 111 test
  • Familial hypertrophic cardiomyopathy 131 test
  • Familial hypertrophic cardiomyopathy 21 test
  • Familial hypertrophic cardiomyopathy 31 test
  • Familial hypertrophic cardiomyopathy 42 tests
  • Familial hypertrophic cardiomyopathy 71 test
  • Familial hypertrophic cardiomyopathy 81 test
  • Familial hypertrophic cardiomyopathy 91 test
  • Familial hypokalemia-hypomagnesemia2 tests
  • Familial hypoplastic, glomerulocystic kidney1 test
  • Familial infantile myasthenia2 tests
  • Familial juvenile gout1 test
  • Familial medullary thyroid carcinoma4 tests
  • Familial porphyria cutanea tarda1 test
  • Fanconi anemia, complementation group A2 tests
  • Fanconi-Bickel syndrome1 test
  • Farber's lipogranulomatosis1 test
  • Fatty liver disease, nonalcoholic 11 test
  • Favism, susceptibility to1 test
  • Fechtner syndrome1 test
  • Feingold syndrome1 test
  • Fibrous dysplasia of jaw1 test
  • Finnish congenital nephrotic syndrome1 test
  • Focal dermal hypoplasia1 test
  • Fragile X syndrome1 test
  • Freeman-Sheldon syndrome1 test
  • Friedreich ataxia 11 test
  • Frontotemporal dementia2 tests
  • Frontotemporal dementia, ubiquitin-positive2 tests
  • Fuhrmann syndrome1 test
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Gastrointestinal Stromal Tumors5 tests
  • Gaucher disease, perinatal lethal2 tests
  • Gaucher's disease, type 12 tests
  • Generalized dominant dystrophic epidermolysis bullosa1 test
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Giant axonal neuropathy1 test
  • Gilbert's syndrome1 test
  • Glaucoma 3, primary congenital, d1 test
  • Glaucoma, congenital1 test
  • Glucocorticoid deficiency with achalasia2 tests
  • Glucocorticoid-remediable aldosteronism1 test
  • Glucose transporter type 1 deficiency syndrome2 tests
  • Glucose-6-phosphate transport defect2 tests
  • Glutaric aciduria, type 12 tests
  • Glutaric aciduria, type 21 test
  • Glycogen storage disease type 1A2 tests
  • Glycogen storage disease type III2 tests
  • Glycogen storage disease, type II1 test
  • Glycogen storage disease, type V2 tests
  • Gorlin syndrome2 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
  • Griscelli syndrome type 21 test
  • Hay-Wells syndrome of ectodermal dysplasia1 test
  • Hb SS disease1 test
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 41 test
  • Hemophagocytic lymphohistiocytosis, familial, 21 test
  • Hemophagocytic lymphohistiocytosis, familial, 41 test
  • Hepatic methionine adenosyltransferase deficiency1 test
  • Hereditary angioneurotic edema with normal C1 esterase inhibitor activity1 test
  • Hereditary coproporphyria1 test
  • Hereditary diffuse gastric cancer2 tests
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary fructosuria2 tests
  • Hereditary hemochromatosis2 tests
  • Hereditary hemorrhagic telangiectasia type 21 test
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary lymphedema type I1 test
  • Hereditary myopathy with early respiratory failure1 test
  • Hereditary nonpolyposis colorectal cancer type 41 test
  • Hereditary nonpolyposis colorectal cancer type 51 test
  • Hereditary pancreatitis5 tests
  • Hirschsprung disease 11 test
  • Holt-Oram syndrome1 test
  • Homocysteinemia due to MTHFR deficiency1 test
  • Homocystinuria due to CBS deficiency2 tests
  • Huntington's chorea1 test
  • Hypercholesterolemia, autosomal dominant, type B3 tests
  • Hyperekplexia hereditary1 test
  • Hyperferritinemia cataract syndrome1 test
  • Hyperimmunoglobulin D with periodic fever2 tests
  • Hyperinsulinism-hyperammonemia syndrome2 tests
  • Hyperkalemic Periodic Paralysis Type 15 tests
  • Hyperlipoproteinemia, type I3 tests
  • Hyperparathyroidism 11 test
  • Hyperparathyroidism 21 test
  • Hypocalcemia, autosomal dominant2 tests
  • Hypochondroplasia2 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia1 test
  • Hypohidrotic X-linked ectodermal dysplasia2 tests
  • Hypokalemic periodic paralysis 12 tests
  • Hypomagnesemia 1, intestinal1 test
  • Hypomagnesemia 5, renal, with ocular involvement1 test
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
  • Hypothyroidism, congenital, nongoitrous, 11 test
  • I cell disease1 test
  • Ichthyosis bullosa of Siemens1 test
  • Ichthyosis vulgaris1 test
  • Idiopathic fibrosing alveolitis, chronic form3 tests
  • Immunodeficiency with hyper IgM type 11 test
  • Incontinentia pigmenti syndrome1 test
  • Infantile nephronophthisis1 test
  • Inflammatory bowel disease 12 tests
  • Intellectual functioning disability1 test
  • Iodotyrosyl coupling defect1 test
  • Irido-corneo-trabecular dysgenesis1 test
  • Islet cell hyperplasia1 test
  • Isolated growth hormone deficiency type 1B2 tests
  • Jackson-Weiss syndrome3 tests
  • Jakob-Creutzfeldt disease1 test
  • Jarcho-Levin syndrome1 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Juvenile myoclonic epilepsy1 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Juvenile nephropathic cystinosis1 test
  • Juvenile neuronal ceroid lipofuscinosis2 tests
  • Juvenile polyposis syndrome2 tests
  • Juvenile retinoschisis2 tests
  • Juvenile-onset dystonia1 test
  • Kallmann syndrome 11 test
  • Kartagener syndrome1 test
  • Kearns Sayre syndrome1 test
  • Keratosis follicularis1 test
  • Klippel Trenaunay syndrome1 test
  • Klippel-Feil syndrome 1, autosomal dominant1 test
  • Klippel-Feil syndrome 3, autosomal dominant1 test
  • Kniest dysplasia1 test
  • Kugelberg-Welander disease1 test
  • LEOPARD syndrome 12 tests
  • Lafora disease2 tests
  • Laron-type isolated somatotropin defect1 test
  • Larsen syndrome, dominant type1 test
  • Leber congenital amaurosis 71 test
  • Leber's optic atrophy2 tests
  • Leigh's disease1 test
  • Leri Weill dyschondrosteosis2 tests
  • Lesch-Nyhan syndrome1 test
  • Leukoencephalopathy with vanishing white matter2 tests
  • Leydig cell agenesis2 tests
  • Li-Fraumeni syndrome 11 test
  • Limb-girdle muscular dystrophy, type 1A1 test
  • Limb-girdle muscular dystrophy, type 1B1 test
  • Limb-girdle muscular dystrophy, type 2A1 test
  • Limb-girdle muscular dystrophy, type 2B1 test
  • Limb-girdle muscular dystrophy, type 2D1 test
  • Limb-girdle muscular dystrophy, type 2E1 test
  • Limb-girdle muscular dystrophy, type 2J1 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C51 test
  • Lipodystrophy, familial partial, type 21 test
  • Lissencephaly 12 tests
  • Loeys-Dietz syndrome 11 test
  • Loeys-Dietz syndrome 21 test
  • Long QT syndrome 11 test
  • Long QT syndrome 21 test
  • Long QT syndrome 52 tests
  • Long QT syndrome 62 tests
  • Lowe syndrome1 test
  • Lung cancer2 tests
  • Lynch syndrome I2 tests
  • Lynch syndrome II3 tests
  • MECP2 duplication syndrome1 test
  • MYH-associated polyposis1 test
  • Macrocephaly/autism syndrome1 test
  • Malignant hyperthermia3 tests
  • Malignant hyperthermia susceptibility type 51 test
  • Marfan's syndrome2 tests
  • Marinesco-Sjögren syndrome1 test
  • Maturity-onset diabetes of the young, type 11 test
  • Maturity-onset diabetes of the young, type 21 test
  • 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 91 test
  • McCune-Albright syndrome3 tests
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 11 test
  • Melanoma astrocytoma syndrome1 test
  • Meningioma, familial1 test
  • Menkes kinky-hair syndrome1 test
  • Merosin deficient congenital muscular dystrophy1 test
  • Metachromatic leukodystrophy1 test
  • Metaphyseal chondrodysplasia, Jansen type1 test
  • Metaphyseal chondrodysplasia, McKusick type1 test
  • Metaphyseal chondrodysplasia, Schmid type1 test
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
  • Microcephaly, normal intelligence and immunodeficiency2 tests
  • Microphthalmia syndromic 31 test
  • Microphthalmia, isolated 22 tests
  • Miller Dieker syndrome1 test
  • Mohr-Tranebjaerg syndrome1 test
  • Mowat-Wilson syndrome2 tests
  • Mucopolysaccharidosis type VI1 test
  • Mucopolysaccharidosis, MPS-I-H/S2 tests
  • Mucopolysaccharidosis, MPS-II1 test
  • Mucopolysaccharidosis, MPS-III-A1 test
  • Mucopolysaccharidosis, MPS-III-B1 test
  • Muenke syndrome1 test
  • Muir-Torré syndrome3 tests
  • Multiple congenital exostosis3 tests
  • Multiple endocrine neoplasia, type 12 tests
  • Multiple endocrine neoplasia, type 2a4 tests
  • Multiple endocrine neoplasia, type 2b3 tests
  • Multiple endocrine neoplasia, type 41 test
  • Multiple epiphyseal dysplasia 11 test
  • Multiple epiphyseal dysplasia 51 test
  • Multiple exostoses type 23 tests
  • Multiple fibrofolliculomas2 tests
  • Multiple pterygium syndrome Escobar type1 test
  • Myasthenia, limb-girdle, familial1 test
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency2 tests
  • Myasthenic syndrome, congenital, fast-channel3 tests
  • Myasthenic syndrome, slow-channel congenital3 tests
  • Myelofibrosis2 tests
  • Myoclonic dystonia2 tests
  • Myoclonus with epilepsy with ragged red fibers1 test
  • Myofibrillar myopathy 11 test
  • Myopathy, early-onset, with fatal cardiomyopathy1 test
  • Myotonic dystrophy type 21 test
  • Nail-patella syndrome1 test
  • Nemaline myopathy 21 test
  • Nemaline myopathy 31 test
  • Nephrogenic diabetes insipidus, X-linked1 test
  • Nephronophthisis 12 tests
  • Nephrotic syndrome, idiopathic, steroid-resistant1 test
  • Netherton syndrome2 tests
  • Neuroferritinopathy1 test
  • Neurofibromatosis, type 13 tests
  • Neurofibromatosis, type 22 tests
  • Neuropathy ataxia retinitis pigmentosa syndrome1 test
  • Niemann-Pick disease type C11 test
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B1 test
  • Non-ketotic hyperglycinemia3 tests
  • Nonpersistence of intestinal lactase1 test
  • Noonan syndrome 11 test
  • Noonan syndrome 32 tests
  • Noonan syndrome 51 test
  • Obesity1 test
  • Ocular albinism, type I1 test
  • Oculocutaneous albinism type 1A1 test
  • Oculocutaneous albinism type 1B1 test
  • Oculofaciocardiodental syndrome1 test
  • Oculopharyngeal muscular dystrophy1 test
  • Ornithine carbamoyltransferase deficiency2 tests
  • Osler hemorrhagic telangiectasia syndrome1 test
  • Osteogenesis imperfecta type 71 test
  • Osteogenesis imperfecta type I1 test
  • Osteogenesis imperfecta type III1 test
  • Osteogenesis imperfecta with normal sclerae, dominant form1 test
  • Osteogenesis imperfecta, recessive perinatal lethal1 test
  • Osteopetrosis autosomal recessive 11 test
  • Osteoporosis1 test
  • Osteosarcoma1 test
  • Oto-palato-digital syndrome, type I1 test
  • Ovarian dysgenesis 21 test
  • Pallister-Hall syndrome1 test
  • Paragangliomas 12 tests
  • Paragangliomas 21 test
  • Paragangliomas 32 tests
  • Paragangliomas 42 tests
  • Paramyotonia congenita of von eulenburg1 test
  • Parathyroid carcinoma1 test
  • Parkes Weber syndrome1 test
  • Parkinson disease 12 tests
  • Parkinson disease 22 tests
  • Parkinson disease 6, autosomal recessive early-onset2 tests
  • Parkinson disease 71 test
  • Parkinson disease 8, autosomal dominant3 tests
  • Patterned dystrophy of retinal pigment epithelium1 test
  • Pelizaeus-Merzbacher disease2 tests
  • Pena-Shokeir syndrome type I2 tests
  • Pendred's syndrome2 tests
  • Permanent neonatal diabetes mellitus1 test
  • Persistent hyperinsulinemic hypoglycemia of infancy2 tests
  • Peters plus syndrome2 tests
  • Peutz-Jeghers syndrome1 test
  • Pfeiffer syndrome3 tests
  • Phenylketonuria2 tests
  • Pigmentary pallidal degeneration1 test
  • Pigmentary retinal dystrophy3 tests
  • Pilomatrixoma1 test
  • Pituitary hormone deficiency, combined 21 test
  • Plasminogen activator inhibitor type 1 deficiency1 test
  • Polycystic kidney disease 22 tests
  • Polycystic kidney disease, adult type2 tests
  • Polycystic kidney disease, infantile type2 tests
  • Polycythemia vera3 tests
  • Polyglandular autoimmune syndrome, type 11 test
  • Polymorphous corneal dystrophy1 test
  • Porphobilinogen synthase deficiency1 test
  • Prader-Willi syndrome2 tests
  • Primary autosomal recessive microcephaly 51 test
  • Primary erythromelalgia1 test
  • Primary hyperoxaluria, type I2 tests
  • Primary open angle glaucoma juvenile onset 11 test
  • Primary pulmonary hypertension2 tests
  • Progressive familial intrahepatic cholestasis 21 test
  • Progressive sclerosing poliodystrophy1 test
  • Prolactinoma, familial2 tests
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
  • Pseudohypoaldosteronism type 1 autosomal dominant1 test
  • Pseudohypoaldosteronism type 1 autosomal recessive1 test
  • Pseudoxanthoma elasticum1 test
  • Pyridoxine-dependent epilepsy2 tests
  • Pyruvate dehydrogenase complex deficiency1 test
  • Pyruvate kinase deficiency1 test
  • Reduced zinc in breast milk1 test
  • Renal adysplasia2 tests
  • Renal tubular acidosis with progressive nerve deafness1 test
  • Renal tubular acidosis, distal, autosomal dominant1 test
  • Renal tubular acidosis, distal, with hemolytic anemia1 test
  • Retinitis pigmentosa 41 test
  • Retinoblastoma2 tests
  • Rett syndrome, congenital variant1 test
  • Rett's disorder2 tests
  • Robinow syndrome1 test
  • Robinow syndrome, autosomal recessive1 test
  • Rothmund-Thomson syndrome1 test
  • Rubinstein-Taybi syndrome2 tests
  • Russell-Silver syndrome1 test
  • SCID due to absent class II HLA antigens4 tests
  • Saethre-Chotzen syndrome1 test
  • Sandhoff disease1 test
  • Schimke immunoosseous dysplasia1 test
  • Sebastian syndrome1 test
  • Seckel syndrome1 test
  • Segawa syndrome, autosomal recessive1 test
  • Septo-optic dysplasia sequence1 test
  • Severe X-linked myotubular myopathy2 tests
  • Severe congenital neutropenia 3, autosomal recessive1 test
  • Severe congenital neutropenia autosomal dominant1 test
  • Severe myoclonic epilepsy in infancy1 test
  • Shprintzen syndrome1 test
  • Shwachman syndrome1 test
  • Simpson-Golabi-Behmel syndrome2 tests
  • Slow acetylator due to N-acetyltransferase enzyme variant1 test
  • Smith-Lemli-Opitz syndrome1 test
  • Smith-Magenis syndrome1 test
  • Somatotroph adenoma2 tests
  • Sotos' syndrome2 tests
  • Spastic paraplegia 101 test
  • Spastic paraplegia 172 tests
  • Spastic paraplegia 22 tests
  • Spastic paraplegia 31 test
  • Spastic paraplegia 31, autosomal dominant1 test
  • Spastic paraplegia 4, autosomal dominant2 tests
  • Spastic paraplegia 44, autosomal recessive1 test
  • Spastic paraplegia 71 test
  • Spermatogenic failure, Y-linked 21 test
  • Spiegler-Brooke syndrome1 test
  • Spinal muscular atrophy, type II1 test
  • Spinocerebellar ataxia 13 tests
  • Spinocerebellar ataxia 102 tests
  • Spinocerebellar ataxia 111 test
  • Spinocerebellar ataxia 121 test
  • Spinocerebellar ataxia 141 test
  • Spinocerebellar ataxia 172 tests
  • Spinocerebellar ataxia 24 tests
  • Spinocerebellar ataxia 271 test
  • Spinocerebellar ataxia 41 test
  • Spinocerebellar ataxia 51 test
  • Spinocerebellar ataxia 63 tests
  • Spinocerebellar ataxia 74 tests
  • Spinocerebellar ataxia 82 tests
  • Spinocerebellar ataxia, autosomal recessive 91 test
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • Stargardt disease 11 test
  • Steinert myotonic dystrophy syndrome2 tests
  • Subacute neuronopathic Gaucher's disease2 tests
  • Supravalvar aortic stenosis2 tests
  • Surfactant metabolism dysfunction, pulmonary, 11 test
  • Surfactant metabolism dysfunction, pulmonary, 21 test
  • Surfactant metabolism dysfunction, pulmonary, 31 test
  • Systemic lupus erythematosus 161 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)2 tests
  • Tay-Sachs disease2 tests
  • Thanatophoric dysplasia type 11 test
  • Thanatophoric dysplasia, type 21 test
  • Thiopurine methyltransferase deficiency1 test
  • Three M syndrome 11 test
  • Thrombocythemia 31 test
  • Thrombocytosis, benign familial microcytic2 tests
  • Thyroid hormone resistance, generalized, autosomal dominant2 tests
  • Thyroid hormone resistance, generalized, autosomal recessive2 tests
  • Townes syndrome1 test
  • Treacher collins syndrome 11 test
  • Trimethylaminuria2 tests
  • Tuberous sclerosis 19 tests
  • Turcot syndrome4 tests
  • Tyrosinase-positive oculocutaneous albinism2 tests
  • Tyrosinemia type I1 test
  • UDPglucose-4-epimerase deficiency1 test
  • Upshaw-Schulman syndrome1 test
  • Usher syndrome, type 2A2 tests
  • Usher syndrome, type 31 test
  • VATER association1 test
  • Van der Woude syndrome1 test
  • Variegate porphyria1 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 21 test
  • Von Hippel-Lindau syndrome2 tests
  • Waardenburg syndrome type 12 tests
  • Wagner syndrome1 test
  • Warburg micro syndrome 12 tests
  • Weaver syndrome1 test
  • Weill-Marchesani syndrome 12 tests
  • Werdnig-Hoffmann disease1 test
  • Williams syndrome3 tests
  • Wilson's disease3 tests
  • Wiskott-Aldrich syndrome1 test
  • Wolff-Parkinson-White pattern2 tests
  • X-linked agammaglobulinemia2 tests
  • X-linked hereditary motor and sensory neuropathy1 test
  • X-linked hydrocephalus syndrome2 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test
  • X-linked lissencephaly2 tests
  • X-linked periventricular heterotopia1 test
  • Xeroderma pigmentosum, group D1 test
  • alpha Thalassemia1 test
  • beta Thalassemia2 tests

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Custom microarray analysis
  • Carrier testing
  • Genetic counseling
  • Identity Testing
  • Mutation Confirmation
  • Result interpretation
  • Uniparental Disomy (UPD) Testing

Participation in external programs

Standardization programs

  • Other

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.

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