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Amsterdam UMC, Location VUmc

  • Amsterdam UMC, Location VUmc
  • Metabolic Unit, PX 1X 009
  • Department: Clinical Chemistry
  • Goederenontvangst - BS6, Van der Boechorststraat 6
  • 1081 BT Amsterdam, Noord-Holland, Netherlands .
  • Phone: +31 20 4442880
    Fax: +31 20 4440305
    Online Contact:
  • Website:

GTR Lab ID: 265808, Last updated:2021-10-14


  • Director: Gajja Salomons, full professor, Lab Director
    Phone: +31 204442914
    Fax: +31 204440305

Conditions and tests

  • 2-hydroxyglutaric aciduria1 test
  • 3-Methylglutaconic aciduria type 31 test
  • Adenosine kinase deficiency1 test
  • Adenylosuccinate lyase deficiency1 test
  • Adult hypophosphatasia1 test
  • Alexander Disease1 test
  • Alpha mannosidosis type II1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
  • Arginine:glycine amidinotransferase deficiency1 test
  • Arterial calcification, generalized, of infancy, 11 test
  • Ashkenazi Jewish disorders1 test
  • Autosomal recessive DOPA responsive dystonia1 test
  • Autosomal recessive hypophosphatemic bone disease1 test
  • Autosomal recessive hypophosphatemic vitamin D refractory rickets1 test
  • B4GALT1-CDG1 test
  • Beta-A-mannosidosis1 test
  • Biotin-responsive basal ganglia disease1 test
  • Carbonic anhydrase VA deficiency, hyperammonemia due to1 test
  • Cataract, juvenile, with microcornea and glucosuria1 test
  • Cerebral folate transport deficiency1 test
  • Childhood hypophosphatasia1 test
  • Chromosome Xq28 deletion syndrome1 test
  • Citrullinemia type I1 test
  • Citrullinemia type II1 test
  • Classic homocystinuria1 test
  • Cobalamin C disease1 test
  • Combined malonic and methylmalonic aciduria1 test
  • Combined molybdoflavoprotein enzyme deficiency2 tests
  • Congenital defect of folate absorption1 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 ferroxidase1 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
  • Dihydropteridine reductase deficiency1 test
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Disorder of amino acid metabolism1 test
  • Disorder of carbohydrate metabolism1 test
  • Disorder of the urea cycle metabolism1 test
  • Disorders of Intracellular Cobalamin Metabolism1 test
  • Epilepsy, early-onset, vitamin b6-dependent1 test
  • Epilepsy, hearing loss, and mental retardation syndrome1 test
  • Epileptic encephalopathy, early infantile, 251 test
  • Epileptic encephalopathy, early infantile, 351 test
  • Fructose-biphosphatase deficiency1 test
  • Fructosuria, essential1 test
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Gamma-aminobutyric acid transaminase deficiency1 test
  • GLUT1 deficiency syndrome 11 test
  • Glutaric aciduria, type 11 test
  • Glycine encephalopathy with normal serum glycine1 test
  • Glycine N-methyltransferase deficiency1 test
  • Glycogen storage disease, type II1 test
  • Glycogen storage disease, type IV1 test
  • Glycogen storage disease, type VII1 test
  • GM1 gangliosidosis1 test
  • GTP cyclohydrolase I deficiency1 test
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary fructosuria1 test
  • Hexosaminidase A deficiency, adult type1 test
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
  • Hyperammonemia, type III1 test
  • Hypercarotenemia and vitamin a deficiency, autosomal dominant1 test
  • Hyperekplexia 31 test
  • Hyperinsulinism-hyperammonemia syndrome1 test
  • Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency1 test
  • Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency1 test
  • Hyperphenylalaninemia, mild, non-bh4-deficient1 test
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity1 test
  • Hypomyelination, global cerebral1 test
  • Hypophosphatasia1 test
  • Hypophosphatemic rickets1 test
  • Imerslund-Gräsbeck syndrome1 test
  • Infantile hypophosphatasia1 test
  • Intrinsic factor deficiency1 test
  • Isolated sulfite oxidase deficiency1 test
  • Juvenile (Subacute) Hexosaminidase A Deficiency1 test
  • L-2-hydroxyglutaric aciduria1 test
  • Leukoencephalopathy2 tests
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
  • Lysinuric protein intolerance1 test
  • Lysosomal acid lipase deficiency1 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
  • Maple syrup urine disease, type 31 test
  • Megaloblastic anemia due to dihydrofolate reductase deficiency1 test
  • Mental retardation 3, X-linked1 test
  • Mental retardation, X-linked, syndromic 101 test
  • Metachromatic leukodystrophy1 test
  • Methionine adenosyltransferase deficiency, autosomal recessive1 test
  • Methylcobalamin deficiency type cblG1 test
  • Methylmalonate semialdehyde dehydrogenase deficiency1 test
  • Methylmalonic acidemia with homocystinuria cblD1 test
  • Methylmalonic acidemia with homocystinuria, type cblJ1 test
  • Methylmalonic aciduria and homocystinuria type cblF1 test
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
  • Methylmalonic aciduria due to transcobalamin receptor defect1 test
  • Mitochondrial complex I deficiency1 test
  • Molybdenum cofactor deficiency, complementation group C1 test
  • MPI-CDG1 test
  • Mucopolysaccharidosis, MPS-III-A1 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
  • Phenylketonuria1 test
  • Phosphoglycerate dehydrogenase deficiency1 test
  • Phosphoserine aminotransferase deficiency1 test
  • Propionic acidemia2 tests
  • Pyridoxal phosphate-responsive seizures1 test
  • Pyridoxine-dependent epilepsy1 test
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency1 test
  • Sanfilippo syndrome1 test
  • Short stature, developmental delay, and congenital heart defects1 test
  • Spasticity, childhood-onset, with hyperglycinemia1 test
  • Spongy degeneration of central nervous system1 test
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • Syndromic X-linked intellectual disability Snyder type1 test
  • Tay-Sachs disease1 test
  • Triosephosphate isomerase deficiency1 test
  • Vitamin B12-responsive methylmalonic acidemia type cblA1 test
  • Vitamin B12-responsive methylmalonic acidemia type cblB1 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
  • X-Chromosome Inactivation Studies

List of certifications/licenses


  • CLIAHelp, Number: 99D1040080, Expiration date: 2018-04-17
  • ISO15189, Number: M 045, Expiration date: 2020-11-01

Participation in external programs

Data exchange Programs

  • Locus-specific Databases

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