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Amsterdam UMC Genome Diagnostics (Amsterdam University Medical Center)

General information

Amsterdam UMC Genome Diagnostics
Amsterdam University Medical Center
Meibergdreef 9
Amsterdam
Noord-Holland
Netherlands - 1105 AZ
https://www.agdx.nl
Organization ID: 76327

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 2

    Gene

    GeneSubmissionsLast Updated
    KDM4B1Oct 30, 2020
    PUS11Oct 8, 2019

    Condition

    NameSubmissionsLast Updated
    Myopathy, lactic acidosis, and sideroblastic anemia 11Oct 8, 2019
    Syndromic global developmental delay1Oct 30, 2020

    Testing in GTR

    Disease nameNumber of tests
    3-Methylglutaconic aciduria type 21 test
    6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1 test
    Abnormal pulmonary interstitial morphology1 test
    Achromatopsia 21 test
    Achromatopsia 31 test
    Adenomatous polyposis coli, attenuated1 test
    Adenylosuccinate lyase deficiency1 test
    Adrenoleukodystrophy1 test
    Adult-onset foveomacular vitelliform dystrophy1 test
    Aland island eye disease1 test
    Amyloidosis, hereditary systemic 11 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 cholestasis2 tests
    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
    CLOVES syndrome1 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 X-linked dominant 11 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, axonal, with vocal cord paresis, autosomal recessive1 test
    Charcot-Marie-Tooth disease, type IA1 test
    Cholestanol storage disease2 tests
    Cholestasis2 tests
    Cholestasis of pregnancy2 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
    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 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
    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
    GTP cyclohydrolase I deficiency1 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
    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 C1 esterase inhibitor deficiency - dysfunctional factor1 test
    Hereditary angioedema type 31 test
    Hereditary angioneurotic edema1 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
    Hypothyroidism, congenital, nongoitrous, 71 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 cholelithiasis3 tests
    Lynch syndrome4 tests
    METHYLMALONIC ACIDURIA, mut(-) TYPE1 test
    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
    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, 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
    Niemann-pick disease, intermediate, protracted neurovisceral1 test
    Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
    Nonimmune chronic idiopathic neutropenia of adults1 test
    Ocular albinism, type I1 test
    Oculocutaneous albinism type 11 test
    Oculocutaneous albinism type 1B1 test
    Oculocutaneous albinism type 41 test
    Optic atrophy 31 test
    Ornithine carbamoyltransferase deficiency1 test
    PITUITARY HORMONE DEFICIENCY, COMBINED, 51 test
    PTEN hamartoma tumor syndrome1 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, 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 cholestasis2 tests
    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
    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
    SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES1 test
    Sanfilippo syndrome1 test
    Scapuloperoneal spinal muscular atrophy1 test
    Selective pituitary resistance to thyroid hormone1 test
    Septo-optic dysplasia sequence1 test
    Severe X-linked myotubular myopathy1 test
    Severe congenital neutropenia1 test
    Severe early-childhood-onset retinal dystrophy2 tests
    Severe neurodegenerative syndrome with lipodystrophy1 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
    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 11 test
    Thyroid dyshormonogenesis 61 test
    Thyroid hormone resistance, generalized, autosomal dominant1 test
    Thyroid hormone resistance, generalized, autosomal recessive1 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 Emery-Dreifuss muscular dystrophy1 test
    X-linked central congenital hypothyroidism with late-onset testicular enlargement1 test
    X-linked cone-rod dystrophy 31 test
    X-linked severe congenital neutropenia1 test
    Yunis-Varon syndrome1 test