GTR Home > Laboratories > Centre for Inherited Metabolic Diseases

Centre for Inherited Metabolic Diseases

GTR Lab ID: 319999, Last updated:2016-08-22


Conditions and tests

  • Acute intermittent porphyria1 test
  • Basal ganglia disease, biotin-responsive1 test
  • Biotinidase deficiency1 test
  • Carnitine palmitoyltransferase II deficiency1 test
  • Congenital erythropoietic porphyria1 test
  • Creatine deficiency, X-linked1 test
  • Deficiency of galactokinase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • Erythropoietic protoporphyria1 test
  • Fabry disease1 test
  • Familial porphyria cutanea tarda1 test
  • Glutaric aciduria, type 11 test
  • Gluthathione synthetase deficiency1 test
  • Hereditary coproporphyria1 test
  • Hereditary fructosuria1 test
  • Homocysteinemia due to MTHFR deficiency1 test
  • Homocystinuria, cblD type, variant 11 test
  • Hyperinsulinemic hypoglycemia, familial, 41 test
  • Hypermethioninemia due to adenosine kinase deficiency1 test
  • Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency1 test
  • Hypomyelination, global cerebral1 test
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Leigh Syndrome (nuclear DNA mutation)1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Methylmalonic acidemia1 test
  • Methylmalonic acidemia with homocystinuria1 test
  • Mitochondrial diseases1 test
  • Mitochondrial DNA Deletion Syndromes1 test
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)1 test
  • Mitochondrial DNA depletion syndrome 21 test
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)1 test
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral1 test
  • Mitochondrial trifunctional protein deficiency1 test
  • Mucopolysaccharidosis type I1 test
  • Myoclonus with epilepsy with ragged red fibers1 test
  • Myoglobinuria, acute recurrent, autosomal recessive1 test
  • Navajo neurohepatopathy1 test
  • Peroxisome biogenesis disorders, Zellweger syndrome spectrum1 test
  • Phenylketonuria1 test
  • Progressive sclerosing poliodystrophy1 test
  • Pyruvate dehydrogenase E1-alpha deficiency1 test
  • Renal carnitine transport defect1 test
  • Variegate porphyria1 test
  • Very long chain acyl-CoA dehydrogenase deficiency1 test

List of services

  • This lab has no services.

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