U.S. flag

An official website of the United States government

GTR Home > Laboratories > Amsterdam UMC Genome Diagnostics

Amsterdam UMC Genome Diagnostics

GTR Lab ID: 76327, Last updated:2022-04-11

Personnel

  • Director: Erik Sistermans, PhD, Lab Director
  • Director: Marcel Mannens, PhD, Lab Director
    Phone: +31 205667899
    Fax: +31 205669389
    Email: KG-DNA@AMC.UVA.NL
  • Egbert Redeker, PhD, Staff
    Phone: +31 205667899
    Fax: +31 205669389
    Email: KG-DNA@AMC.UVA.NL
  • Sonna Stolk, PhD, Staff
    Phone: +31205665110
    Fax: +31205669389
    Email: s.a.stolk@amc.nl

Conditions and tests

  • 3-Methylglutaconic aciduria type 21 test
  • 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1 test
  • Achromatopsia 21 test
  • Achromatopsia 31 test
  • Adenomatous polyposis coli, attenuated1 test
  • Adenylosuccinate lyase deficiency1 test
  • Adrenoleukodystrophy1 test
  • Adult-onset foveomacular vitelliform dystrophy1 test
  • Amyloidogenic transthyretin amyloidosis1 test
  • Amyotrophic lateral sclerosis type 11 test
  • Amyotrophic lateral sclerosis type 101 test
  • Amyotrophic lateral sclerosis type 111 test
  • Amyotrophic lateral sclerosis type 41 test
  • Amyotrophic lateral sclerosis type 61 test
  • Amyotrophic lateral sclerosis type 91 test
  • Amyotrophic neuralgia1 test
  • Andersen Tawil syndrome1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
  • Angelman syndrome2 tests
  • Angiomatoid fibrous histiocytoma1 test
  • Aniridia 11 test
  • Anophthalmia-microphthalmia syndrome2 tests
  • Arginase deficiency1 test
  • Arginine:glycine amidinotransferase deficiency1 test
  • Argininosuccinate lyase deficiency1 test
  • Arrhythmogenic cardiomyopathy with woolly hair and keratoderma1 test
  • Arrhythmogenic right ventricular cardiomyopathy2 tests
  • Arrhythmogenic right ventricular dysplasia 101 test
  • Arrhythmogenic right ventricular dysplasia 111 test
  • Arrhythmogenic right ventricular dysplasia 121 test
  • Arrhythmogenic right ventricular dysplasia 21 test
  • Arrhythmogenic right ventricular dysplasia 51 test
  • Arrhythmogenic right ventricular dysplasia 81 test
  • Arrhythmogenic right ventricular dysplasia 91 test
  • Arterial calcification, generalized, of infancy, 11 test
  • Arterial calcification, generalized, of infancy, 21 test
  • Atrial fibrillation, familial, 101 test
  • Atrial septal defect 21 test
  • Atrial septal defect 71 test
  • Atrioventricular septal defect 41 test
  • Atypical Rett syndrome1 test
  • Autosomal dominant centronuclear myopathy1 test
  • Autosomal dominant congenital benign spinal muscular atrophy1 test
  • Autosomal dominant optic atrophy classic form1 test
  • Autosomal dominant vitreoretinochoroidopathy1 test
  • Autosomal recessive bestrophinopathy1 test
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1 test
  • Axenfeld-Rieger syndrome type 11 test
  • Axenfeld-Rieger syndrome type 31 test
  • Bamforth-Lazarus syndrome1 test
  • Bannayan-Riley-Ruvalcaba syndrome1 test
  • Basal laminar drusen1 test
  • Beckwith-Wiedemann syndrome2 tests
  • Benign hereditary chorea1 test
  • Benign recurrent intrahepatic cholestasis type 11 test
  • Benign recurrent intrahepatic cholestasis type 21 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy2 tests
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency1 test
  • Brachyrachia (short spine dysplasia)1 test
  • Brain-lung-thyroid syndrome1 test
  • Brugada syndrome1 test
  • Brugada syndrome 11 test
  • Capillary infantile hemangioma1 test
  • Capillary malformation-arteriovenous malformation 12 tests
  • Cardiac arrhythmia1 test
  • Cardiomyopathy, familial restrictive, 31 test
  • Carney complex, type 11 test
  • Catecholaminergic polymorphic ventricular tachycardia 11 test
  • Catecholaminergic polymorphic ventricular tachycardia 21 test
  • Catecholaminergic polymorphic ventricular tachycardia 41 test
  • Cerebral cavernous malformation 11 test
  • Cerebral cavernous malformation 21 test
  • Cerebral cavernous malformation 31 test
  • Charcot-Marie-Tooth disease axonal type 2C1 test
  • Charcot-Marie-Tooth disease axonal type 2F1 test
  • Charcot-Marie-Tooth disease axonal type 2K1 test
  • Charcot-Marie-Tooth disease axonal type 2L1 test
  • Charcot-Marie-Tooth disease axonal type 2P1 test
  • Charcot-Marie-Tooth disease dominant intermediate B1 test
  • Charcot-Marie-Tooth disease dominant intermediate D1 test
  • Charcot-Marie-Tooth disease recessive intermediate A1 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 2B1 test
  • Charcot-Marie-Tooth disease type 2B11 test
  • Charcot-Marie-Tooth disease type 2D1 test
  • Charcot-Marie-Tooth disease type 2E1 test
  • Charcot-Marie-Tooth disease type 2I1 test
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease type 4A1 test
  • Charcot-Marie-Tooth disease type 4B11 test
  • Charcot-Marie-Tooth disease type 4C1 test
  • Charcot-Marie-Tooth disease type 4D1 test
  • Charcot-Marie-Tooth disease type 4H1 test
  • Charcot-Marie-Tooth disease type 4J1 test
  • Charcot-Marie-Tooth disease X-linked dominant 11 test
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
  • Charcot-Marie-Tooth disease, type IA1 test
  • Cholestanol storage disease2 tests
  • Cholestasis, intrahepatic, of pregnancy, 12 tests
  • Cholestasis, intrahepatic, of pregnancy, 31 test
  • Chondrodysplasia Blomstrand type1 test
  • Choroidal dystrophy, central areolar 21 test
  • Chylomicron retention disease1 test
  • Citrullinemia type I1 test
  • Classic homocystinuria1 test
  • CLOVES syndrome1 test
  • Cobalamin deficiency1 test
  • Coenzyme Q10 deficiency, primary, 11 test
  • Combined immunodeficiency due to DOCK8 deficiency1 test
  • Combined molybdoflavoprotein enzyme deficiency1 test
  • Cone-rod dystrophy 31 test
  • Cone-rod synaptic disorder, congenital nonprogressive1 test
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
  • Congenital generalized lipodystrophy type 21 test
  • Congenital heart block1 test
  • Congenital hyperammonemia, type I1 test
  • Congenital hypomyelinating neuropathy2 tests
  • Congenital muscular dystrophy due to LMNA mutation1 test
  • Congenital muscular hypertrophy-cerebral syndrome1 test
  • Congenital pontocerebellar hypoplasia type 11 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
  • Congenital stationary night blindness 1A1 test
  • Congenital stationary night blindness 1B1 test
  • Congenital stationary night blindness 1C1 test
  • Congenital stationary night blindness 1E1 test
  • Congenital stationary night blindness 2A1 test
  • Cornelia de Lange syndrome 11 test
  • Cornelia de Lange syndrome 51 test
  • Cowden syndrome1 test
  • Cyclical neutropenia1 test
  • Danon disease1 test
  • De Lange syndrome3 tests
  • Deficiency of alpha-mannosidase1 test
  • Deficiency of aromatic-L-amino-acid decarboxylase1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of iodide peroxidase1 test
  • Deficiency of malonyl-CoA decarboxylase1 test
  • Dejerine-Sottas disease4 tests
  • Diabetes mellitus, transient neonatal, 21 test
  • Diabetes mellitus, transient neonatal, 31 test
  • Dihydropteridine reductase deficiency1 test
  • Dilated cardiomyopathy 1A3 tests
  • Dilated cardiomyopathy 1D1 test
  • Dilated cardiomyopathy 1E1 test
  • Dilated cardiomyopathy 1FF1 test
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1P1 test
  • Dilated cardiomyopathy 1S1 test
  • Dilated cardiomyopathy 1Y1 test
  • Dilated cardiomyopathy 2A1 test
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
  • Distichiasis-lymphedema syndrome1 test
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
  • Drash syndrome1 test
  • Early-onset generalized limb-onset dystonia1 test
  • Eiken syndrome1 test
  • Encephalopathy due to GLUT1 deficiency1 test
  • Enhanced S-cone syndrome1 test
  • Fabry disease1 test
  • Fabry disease, cardiac variant1 test
  • Familial digital arthropathy-brachydactyly1 test
  • Familial hyperaldosteronism type III1 test
  • Familial hypercholesterolemia1 test
  • Familial hypobetalipoproteinemia1 test
  • Familial multiple polyposis syndrome1 test
  • Familial partial lipodystrophy, Dunnigan type2 tests
  • Familial restrictive cardiomyopathy1 test
  • Familial thyroid dyshormonogenesis 11 test
  • Fatal familial insomnia1 test
  • Fetal akinesia-cerebral and retinal hemorrhage syndrome1 test
  • Fibrous dysplasia of jaw1 test
  • Focal dermal hypoplasia1 test
  • Frasier syndrome1 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 61 test
  • Galloway-Mowat syndrome 11 test
  • Gaucher disease1 test
  • Generalized juvenile polyposis/juvenile polyposis coli2 tests
  • Gerstmann-Straussler-Scheinker syndrome1 test
  • Glaucoma 1, open angle, A1 test
  • Glaucoma 1, open angle, E1 test
  • Glaucoma 3, primary infantile, B1 test
  • Glomuvenous malformation1 test
  • Glucocorticoid-remediable aldosteronism1 test
  • Glutaric aciduria, type 11 test
  • Gm2-gangliosidosis, adult1 test
  • Gm2-gangliosidosis, chronic1 test
  • GTP cyclohydrolase I deficiency1 test
  • Guillain-Barre syndrome, familial1 test
  • Heart block1 test
  • Heart-hand syndrome, Slovenian type1 test
  • Hemihypertrophy1 test
  • Hennekam lymphangiectasia-lymphedema syndrome1 test
  • Hennekam lymphangiectasia-lymphedema syndrome 12 tests
  • Hereditary angioedema type 31 test
  • Hereditary angioneurotic edema1 test
  • Hereditary C1 esterase inhibitor deficiency - dysfunctional factor1 test
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary lymphedema type I1 test
  • Hereditary motor and sensory neuropathy with optic atrophy1 test
  • Hereditary sensory and autonomic neuropathy type 11 test
  • Hereditary spastic paraplegia 171 test
  • Holmes-Adie syndrome1 test
  • Holocarboxylase synthetase deficiency1 test
  • Holt-Oram syndrome1 test
  • Homocystinuria due to MTHFR deficiency1 test
  • Huntington disease-like 11 test
  • Hutchinson-Gilford syndrome1 test
  • Hyper-IgE recurrent infection syndrome 11 test
  • Hyperalphalipoproteinemia 11 test
  • Hypercholanemia, familial 11 test
  • Hyperinsulinemic hypoglycemia, familial, 11 test
  • Hyperinsulinemic hypoglycemia, familial, 21 test
  • Hyperinsulinemic hypoglycemia, familial, 41 test
  • Hyperinsulinism due to glucokinase deficiency1 test
  • Hyperinsulinism-hyperammonemia syndrome1 test
  • Hyperthyroidism1 test
  • Hypertriglyceridemia, familial1 test
  • Hypertrophic cardiomyopathy 11 test
  • Hypertrophic cardiomyopathy 101 test
  • Hypertrophic cardiomyopathy 181 test
  • Hypertrophic cardiomyopathy 21 test
  • Hypertrophic cardiomyopathy 31 test
  • Hypertrophic cardiomyopathy 41 test
  • Hypertrophic cardiomyopathy 61 test
  • Hypertrophic cardiomyopathy 71 test
  • Hypertrophic cardiomyopathy 81 test
  • Hypertrophic cardiomyopathy 91 test
  • Hypoalphalipoproteinemia, primary, 11 test
  • Hypothalamic hypothyroidism1 test
  • Hypothyroidism due to TSH receptor mutations1 test
  • Hypothyroidism, congenital, nongoitrous, 21 test
  • IMAGe syndrome1 test
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia1 test
  • Inherited Creutzfeldt-Jakob disease1 test
  • INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON-TURNER TYPE1 test
  • Iodotyrosine deiodination defect1 test
  • Iodotyrosyl coupling defect1 test
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Jervell and Lange-Nielsen syndrome 11 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Juvenile (Subacute) Hexosaminidase A Deficiency1 test
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
  • Juvenile retinoschisis1 test
  • Kuru, susceptibility to1 test
  • LAMP2-Related Cardiomyopathy1 test
  • Leber congenital amaurosis 101 test
  • Leber congenital amaurosis 21 test
  • Leber congenital amaurosis 81 test
  • Left ventricular noncompaction 51 test
  • Left ventricular noncompaction cardiomyopathy1 test
  • Lesch-Nyhan syndrome1 test
  • Lethal tight skin contracture syndrome1 test
  • Long QT syndrome2 tests
  • Long QT syndrome 11 test
  • Long QT syndrome 21 test
  • Long QT syndrome 31 test
  • Long QT syndrome 51 test
  • Long QT syndrome 61 test
  • Long QT syndrome 91 test
  • Low phospholipid associated cholelithiasis1 test
  • Lynch syndrome4 tests
  • Mandibuloacral dysplasia with type A lipodystrophy1 test
  • Maple syrup urine disease1 test
  • Maturity-onset diabetes of the young type 21 test
  • McCune-Albright syndrome1 test
  • Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
  • Metachromatic leukodystrophy1 test
  • Metaphyseal chondrodysplasia, Jansen type1 test
  • Metatropic dysplasia1 test
  • Methemoglobinemia type 21 test
  • Methemoglobinemia, type I1 test
  • Methylmalonic aciduria, cblA type1 test
  • Methylmalonic aciduria, cblB type1 test
  • METHYLMALONIC ACIDURIA, mut(-) TYPE1 test
  • Microcephaly 1, primary, autosomal recessive1 test
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1 test
  • Microcephaly 5, primary, autosomal recessive1 test
  • Microcephaly 6, primary, autosomal recessive1 test
  • Microcephaly 7, primary, autosomal recessive1 test
  • Motor developmental delay due to 14q32.2 paternally expressed gene defect1 test
  • Mucopolysaccharidosis Type I/II1 test
  • Multiple cutaneous and mucosal venous malformations1 test
  • MUTYH-related attenuated familial adenomatous polyposis1 test
  • Myoclonic dystonia 111 test
  • Neuronopathy, distal hereditary motor, type 2A1 test
  • Neuronopathy, distal hereditary motor, type 2B1 test
  • Neuronopathy, distal hereditary motor, type 5A2 tests
  • Neuropathy, hereditary sensory and autonomic, type 2A1 test
  • Neutral 1 amino acid transport defect1 test
  • Neutropenia, severe congenital, 1, autosomal dominant1 test
  • Neutropenia, severe congenital, 2, autosomal dominant1 test
  • Nicolaides-Baraitser syndrome1 test
  • Niemann-pick disease, intermediate, protracted neurovisceral1 test
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B1 test
  • Niemann-Pick disease, type C3 tests
  • Niemann-Pick disease, type C11 test
  • Niemann-Pick disease, type C1, adult form1 test
  • Niemann-Pick disease, type C1, juvenile form1 test
  • Niemann-Pick disease, type C21 test
  • Niemann-Pick disease, type D1 test
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
  • Nonimmune chronic idiopathic neutropenia of adults1 test
  • Ocular albinism, type I1 test
  • Ocular albinism, type II1 test
  • Oculocutaneous albinism type 11 test
  • Oculocutaneous albinism type 1B1 test
  • Oculocutaneous albinism type 41 test
  • Optic atrophy 31 test
  • Ornithine carbamoyltransferase deficiency1 test
  • Parastremmatic dwarfism1 test
  • Paternal uniparental disomy of chromosome 141 test
  • Patterned macular dystrophy1 test
  • Pendred syndrome1 test
  • Permanent neonatal diabetes mellitus4 tests
  • Pigmented paravenous retinochoroidal atrophy1 test
  • Pituitary hormone deficiency, combined 51 test
  • Pituitary hormone deficiency, combined, 11 test
  • Pituitary hormone deficiency, combined, 21 test
  • Pituitary hormone deficiency, combined, 61 test
  • Polyposis syndrome, hereditary mixed, 21 test
  • Pontocerebellar hypoplasia type 101 test
  • Pontocerebellar hypoplasia type 1B1 test
  • Pontocerebellar hypoplasia type 2A1 test
  • Pontocerebellar hypoplasia type 2B1 test
  • Pontocerebellar hypoplasia type 2C1 test
  • Pontocerebellar hypoplasia type 2D1 test
  • Pontocerebellar hypoplasia type 41 test
  • Pontocerebellar hypoplasia type 61 test
  • Prader-Willi syndrome1 test
  • Primary dilated cardiomyopathy1 test
  • Primary failure of tooth eruption1 test
  • Primary familial hypertrophic cardiomyopathy1 test
  • Progressive familial heart block type IB1 test
  • Progressive familial heart block, type 1A1 test
  • Progressive familial intrahepatic cholestasis type 11 test
  • Progressive familial intrahepatic cholestasis type 21 test
  • Progressive familial intrahepatic cholestasis type 31 test
  • Properdin deficiency, X-linked1 test
  • Propionic acidemia1 test
  • Proteus syndrome1 test
  • Pseudohypoparathyroidism1 test
  • Pseudohypoparathyroidism type 1B1 test
  • Pseudoxanthoma elasticum1 test
  • PTEN hamartoma tumor syndrome1 test
  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency1 test
  • Pulmonary hypertension, primary, 11 test
  • Pulmonary hypertension, primary, 31 test
  • Pulmonary hypertension, primary, 41 test
  • Purine-nucleoside phosphorylase deficiency1 test
  • Pyridoxal phosphate-responsive seizures1 test
  • Pyridoxine-dependent epilepsy1 test
  • Restrictive cardiomyopathy1 test
  • Retinitis pigmentosa1 test
  • Retinitis pigmentosa 121 test
  • Retinitis pigmentosa 191 test
  • Retinitis pigmentosa 21 test
  • Retinitis pigmentosa 201 test
  • Retinitis pigmentosa 251 test
  • Retinitis pigmentosa 31 test
  • Retinitis pigmentosa 371 test
  • Retinitis pigmentosa 392 tests
  • Retinitis pigmentosa 41 test
  • Retinitis pigmentosa 401 test
  • Retinitis pigmentosa 431 test
  • Retinitis pigmentosa 501 test
  • Retinitis pigmentosa 71 test
  • Rett syndrome1 test
  • Rett syndrome, congenital variant1 test
  • Roussy-Lévy syndrome1 test
  • Sanfilippo syndrome1 test
  • Scapuloperoneal spinal muscular atrophy1 test
  • Secondary hypothyroidism1 test
  • Selective pituitary resistance to thyroid hormone1 test
  • Septo-optic dysplasia sequence1 test
  • Severe congenital neutropenia1 test
  • Severe early-childhood-onset retinal dystrophy2 tests
  • Severe neurodegenerative syndrome with lipodystrophy1 test
  • Severe X-linked myotubular myopathy1 test
  • Short QT syndrome1 test
  • Short QT syndrome type 11 test
  • Short QT syndrome type 21 test
  • Short QT syndrome type 31 test
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
  • Shwachman-Diamond syndrome 11 test
  • Sick sinus syndrome 11 test
  • Sick sinus syndrome 2, autosomal dominant1 test
  • Silver-Russell syndrome 12 tests
  • Simpson-Golabi-Behmel syndrome type 11 test
  • Skin/hair/eye pigmentation, variation in, 11 test
  • Sodium serum level quantitative trait locus 11 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
  • Spondyloepimetaphyseal dysplasia, Maroteaux type1 test
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • Spongiform encephalopathy with neuropsychiatric features1 test
  • Stargardt disease1 test
  • Stargardt disease 31 test
  • Statin causing adverse effect in therapeutic use1 test
  • Statin-induced myopathy1 test
  • Stuve-Wiedemann syndrome1 test
  • Sudden cardiac death1 test
  • Susceptibility to mononeuropathy of the median nerve, mild1 test
  • Syndromic X-linked intellectual disability Najm type1 test
  • Tay-Sachs disease1 test
  • Tay-Sachs disease, b variant, adult form1 test
  • Tetralogy of Fallot1 test
  • Thrombocytopenia 11 test
  • Thrombocytopenia, X-linked, intermittent1 test
  • Thyroglobulin synthesis defect1 test
  • Thyroid dyshormonogenesis1 test
  • Thyroid dyshormonogenesis 61 test
  • Thyroid hormone resistance, generalized, autosomal dominant1 test
  • Thyroid hormone resistance, generalized, autosomal recessive1 test
  • Thyrotropin-releasing hormone resistance, generalized1 test
  • Timothy syndrome1 test
  • Torsion dystonia 61 test
  • Tremor, hereditary essential, 41 test
  • Trichorhinophalangeal dysplasia type I1 test
  • Trichorhinophalangeal syndrome, type III1 test
  • Tyrosinase-negative oculocutaneous albinism1 test
  • Tyrosinase-positive oculocutaneous albinism1 test
  • Van Maldergem syndrome 21 test
  • Ventricular septal defect 11 test
  • Ventricular septal defect 31 test
  • Vici syndrome1 test
  • Vitamin K-dependent clotting factors, combined deficiency of, type 11 test
  • Vitelliform macular dystrophy 21 test
  • Wiskott-Aldrich syndrome1 test
  • Wolff-Parkinson-White pattern3 tests
  • X-linked central congenital hypothyroidism with late-onset testicular enlargement1 test
  • X-linked cone-rod dystrophy 31 test
  • X-linked Emery-Dreifuss muscular dystrophy1 test
  • X-linked severe congenital neutropenia1 test
  • Yunis-Varon syndrome1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Carrier testing
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Uniparental Disomy (UPD) Testing

List of certifications/licenses

Certifications

  • ISO15189, Number: Dutch Accreditation Council, M174, Expiration date: 2023-12-01

Participation in external programs

Standardization programs

  • Mutation-specific Databases

Data exchange Programs

  • Mutation-specific Databases

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.