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GTR Home > Laboratories > Amsterdam UMC, Location AMC

Amsterdam UMC, Location AMC

GTR Lab ID: 265808, Last updated:2023-10-12

Personnel

Conditions and tests

  • 2-hydroxyglutaric aciduria1 test
  • 3-methylglutaconic aciduria type 11 test
  • 3-Methylglutaconic aciduria type 31 test
  • Acyl-CoA oxidase deficiency1 test
  • Adenosine kinase deficiency1 test
  • Adenylosuccinate lyase deficiency1 test
  • Adrenoleukodystrophy1 test
  • Adult hypophosphatasia1 test
  • Alexander disease1 test
  • Alpha mannosidosis type II1 test
  • Alpha-methylacyl-CoA racemase deficiency1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
  • Arginine:glycine amidinotransferase deficiency1 test
  • Argininosuccinate lyase deficiency1 test
  • Arterial calcification of infancy1 test
  • Ashkenazi Jewish disorders1 test
  • Atypical glycine encephalopathy1 test
  • Autosomal recessive DOPA responsive dystonia1 test
  • Autosomal recessive hypophosphatemic bone disease1 test
  • B4GALT1-congenital disorder of glycosylation1 test
  • Beta-A-mannosidosis1 test
  • Bifunctional peroxisomal enzyme deficiency1 test
  • Biotin-responsive basal ganglia disease1 test
  • CADDS1 test
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyl transferase 1A deficiency1 test
  • Carnitine palmitoyltransferase II deficiency1 test
  • Cerebral folate transport deficiency1 test
  • Child syndrome1 test
  • Childhood hypophosphatasia1 test
  • Chondrodysplasia punctata 2 X-linked dominant1 test
  • Citrullinemia1 test
  • Citrullinemia type II1 test
  • Classic homocystinuria1 test
  • Cobalamin C disease1 test
  • COG8-congenital disorder of glycosylation1 test
  • Combined malonic and methylmalonic acidemia1 test
  • Combined molybdoflavoprotein enzyme deficiency2 tests
  • Congenital defect of folate absorption1 test
  • Constitutional megaloblastic anemia with severe neurologic disease1 test
  • Creatine transporter deficiency1 test
  • D-2-hydroxyglutaric aciduria 11 test
  • D-2-hydroxyglutaric aciduria 21 test
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
  • Deficiency of aromatic-L-amino-acid decarboxylase1 test
  • Deficiency of beta-ureidopropionase1 test
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of ferroxidase1 test
  • Deficiency of galactokinase1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of malonyl-CoA decarboxylase1 test
  • Deficiency of phosphoserine phosphatase1 test
  • Deficiency of ribose-5-phosphate isomerase1 test
  • Deficiency of transaldolase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • Desmosterolosis1 test
  • Developmental and epileptic encephalopathy, 251 test
  • Developmental and epileptic encephalopathy, 351 test
  • Developmental and epileptic encephalopathy, 391 test
  • Dihydropteridine reductase deficiency1 test
  • Dihydropyrimidinase deficiency1 test
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Disorder of amino acid metabolism1 test
  • Disorder of the urea cycle metabolism1 test
  • Disorders of Intracellular Cobalamin Metabolism1 test
  • Encephalopathy due to GLUT1 deficiency1 test
  • Epilepsy, early-onset, vitamin B6-dependent1 test
  • Essential fructosuria1 test
  • Ethylmalonic encephalopathy1 test
  • Fructose-biphosphatase deficiency1 test
  • Galactosialidosis, adult1 test
  • Galactosialidosis, early infantile1 test
  • Galactosialidosis, late infantile1 test
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Gamma-aminobutyric acid transaminase deficiency1 test
  • Glutaric aciduria, type 12 tests
  • Glycine N-methyltransferase deficiency1 test
  • Glycogen storage disease, type II1 test
  • Glycogen storage disease, type IV1 test
  • Glycogen storage disease, type VII1 test
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency1 test
  • GM1 gangliosidosis1 test
  • Greenberg dysplasia1 test
  • GTP cyclohydrolase I deficiency2 tests
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary fructosuria2 tests
  • Hereditary hypercarotenemia and vitamin A deficiency1 test
  • Hereditary intrinsic factor deficiency1 test
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
  • HSD10 mitochondrial disease2 tests
  • Hyperammonemia, type III1 test
  • Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency1 test
  • Hyperekplexia 31 test
  • Hyperimmunoglobulin D with periodic fever1 test
  • Hyperinsulinism-hyperammonemia syndrome1 test
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase1 test
  • Hyperphenylalaninemia due to DNAJC12 deficiency1 test
  • Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency1 test
  • Hypervalinemia and hyperleucine-isoleucinemia1 test
  • Hypomyelination with brain stem and spinal cord involvement and leg spasticity1 test
  • Hypophosphatasia1 test
  • Hypophosphatemic rickets1 test
  • Hypophosphatemic rickets, autosomal recessive, 11 test
  • Imerslund-Grasbeck syndrome1 test
  • Inborn carbohydrate metabolic disorder1 test
  • Infantile hypophosphatasia1 test
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Juvenile (Subacute) Hexosaminidase A Deficiency1 test
  • Juvenile cataract-microcornea-renal glucosuria syndrome1 test
  • L-2-hydroxyglutaric aciduria1 test
  • Lathosterolosis1 test
  • Leukoencephalopathy2 tests
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
  • Lipoic acid synthetase deficiency1 test
  • Lysinuric protein intolerance1 test
  • Majeed syndrome1 test
  • Maple syrup urine disease type 1A1 test
  • Maple syrup urine disease type 1B1 test
  • Maple syrup urine disease type 21 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Metachromatic leukodystrophy1 test
  • Methionine adenosyltransferase deficiency, autosomal recessive1 test
  • Methylcobalamin deficiency type cblG1 test
  • Methylmalonate semialdehyde dehydrogenase deficiency1 test
  • Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1 test
  • Methylmalonic acidemia due to transcobalamin receptor defect1 test
  • Methylmalonic acidemia with homocystinuria, type cblJ1 test
  • Methylmalonic acidemia with homocystinuria, type cblX1 test
  • Methylmalonic aciduria and homocystinuria type cblD1 test
  • Methylmalonic aciduria and homocystinuria type cblF1 test
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
  • Methylmalonic aciduria, cblA type1 test
  • Methylmalonic aciduria, cblB type1 test
  • Mevalonic aciduria1 test
  • Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1 test
  • Mitochondrial complex I deficiency1 test
  • Mitochondrial DNA depletion syndrome 91 test
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
  • Mitochondrial trifunctional protein deficiency2 tests
  • MPI-congenital disorder of glycosylation1 test
  • Mucopolysaccharidosis, MPS-III-A1 test
  • Mucopolysaccharidosis, MPS-III-B1 test
  • Multiple acyl-CoA dehydrogenase deficiency1 test
  • Multiple mitochondrial dysfunctions syndrome 11 test
  • Multiple mitochondrial dysfunctions syndrome 21 test
  • Multiple sulfatase deficiency1 test
  • Myoglobinuria, acute recurrent, autosomal recessive1 test
  • Neural tube defects, folate-sensitive1 test
  • Neutral 1 amino acid transport defect1 test
  • Non-ketotic hyperglycinemia3 tests
  • Ornithine carbamoyltransferase deficiency1 test
  • Peroxisome biogenesis disorder1 test
  • Phenylketonuria1 test
  • PHGDH deficiency1 test
  • Phytanic acid storage disease3 tests
  • Primary hyperoxaluria, type I1 test
  • Propionic acidemia2 tests
  • PSAT deficiency1 test
  • Pyridoxal phosphate-responsive seizures1 test
  • Pyridoxine-dependent epilepsy1 test
  • Pyruvate dehydrogenase E3 deficiency1 test
  • Renal carnitine transport defect1 test
  • Rhizomelic chondrodysplasia punctata type 11 test
  • Rhizomelic chondrodysplasia punctata type 21 test
  • Rhizomelic chondrodysplasia punctata type 31 test
  • Sanfilippo syndrome1 test
  • Sj√∂gren-Larsson syndrome1 test
  • Smith-Lemli-Opitz syndrome1 test
  • Spasticity-ataxia-gait anomalies syndrome1 test
  • Spongy degeneration of central nervous system1 test
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • Sulfite oxidase deficiency1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
  • Syndromic X-linked intellectual disability Snyder type1 test
  • Tay-Sachs disease1 test
  • Tay-Sachs disease, B variant, adult form1 test
  • Transketolase deficiency1 test
  • Triosephosphate isomerase deficiency1 test
  • Very long chain acyl-CoA dehydrogenase deficiency1 test
  • Wolman disease1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Prenatal testing
  • Custom Sequence Analysis
  • Carrier testing
  • Mutation Confirmation

List of certifications/licenses

Certifications

  • ISO15189, Number: M 154, Expiration date: 2027-05-01

Participation in external programs

Data exchange Programs

  • Locus-specific Databases

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