Amsterdam UMC Genome Diagnostics

Amsterdam UMC Genome Diagnostics, AGDx
Amsterdam University Medical Center, Location AMC (AMC)
Department: Human Genetics
Meibergdreef 9
Amsterdam, Noord-Holland, Netherlands 1105 AZ
Phone: +31 20 5667899
Fax: +31 20 5669389
Email: info@amsterdamgenomedx.com
Online Contact: https://genomediagnostics.amsterdamumc.nl/contact/
Website: https://www.agdx.nl
Affiliated with:
- Amsterdam University Medical Center, Location VUmc, https://www.agdx.nl

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GTR Lab ID: 76327, Last updated:2024-04-16

Personnel

Director: Erik Sistermans, PhD, Lab Director
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

442 conditions/phenotypes with 232 tests
Enter text to narrow down the list

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
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 wooly 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 optic atrophy classic form1 test
Autosomal dominant vitreoretinochoroidopathy1 test
Autosomal recessive bestrophinopathy1 test
Autosomal recessive inherited pseudoxanthoma elasticum1 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
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
Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
Encephalopathy due to GLUT1 deficiency1 test
Enhanced S-cone syndrome1 test
Fabry disease1 test
Fabry disease, cardiac variant1 test
Familial adenomatous polyposis 21 test
Familial amyloid neuropathy1 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 methylene tetrahydrofolate reductase deficiency1 test
Huntington disease-like 11 test
Hutchinson-Gilford syndrome1 test
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1 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 11 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
Iodotyrosine deiodination defect1 test
Iodotyrosyl coupling defect1 test
Isolated thyroid-stimulating hormone deficiency1 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
Myoclonic dystonia 111 test
Neuronopathy, distal hereditary motor, autosomal dominant 81 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
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
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 1, BLUE/NONBLUE EYES1 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
Wilson-Turner syndrome1 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

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