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Metabolomic Study

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Diseases manifested by metabolic abnormalities

are predominantly genetic disorders that rarely show signs or symptoms during the neonatal stage. Early diagnosis and early treatment during the early stages of infancy can lead to a good prognosis, making early detection absolutely pivotal. GC Labs performs a wide range of neonatal screening tests and accurate genetic diagnoses in one-step for the early detection of inborn error metabolic diseases.

We are the only reference laboratory in Korea that conducts the enzyme activity test, a specialized biochemical confirmation test that is a part of our test for inherited metabolic disorders. In particular, we have patented “a method for analyzing tandem-mass data for clinical diagnosis” for the first time in Korea in our extensive inherited metabolic disorder test in newborns.

Institute of Metabolism

Analysis of heavy metals, amino acids, vitamins, organic acids, fatty acids, catecholamine and its metabolites, ketone body, metabolites of organic compounds, kidney stone evaluation, and pharmacokinetic testing, which are related to the metabolism in human body, are being performed actively using LC-MS/MS, GC-MS, HPLC, IC, ICP-MS and AAS on internationally fully acknowledged level. Heavy metal testing is especially performed in Class 1,000 clean room, with positive pressure systems to avoid the contamination of trace metals from air, and to provide more accurate trace metal test results.

In possession of the highest numbers of experienced personnel and high-end cutting edge analyzers among the reference laboratories in Korea, we at GC Labs provide highly accurate and detailed results in a shorter time.

Neonatal Screening Test

  • TSH, 17a-OHP, galactose, phenylalanine, leucine, methionine
  • Amino acid analysis
  • Organic acid analysis
  • Fatty acid analysis

Metabolic and Nutritional Profiles

  • Catecholamine and its metabolites
  • Metabolites of organic compounds
  • Vitamins
  • Coenzyme Q10, Homocysteine
  • Organic acid profiles
  • Amino acid profiles
  • Fatty acid profiles
  • ADMA (Asymmetric dimethylarginine) Assay
  • Smoking risk factor profiles

Environmental Toxicant Assay

  • Phthalates profile
  • PAHs (polynuclear aromatic hydrocarbons) profile
  • VOCs (volatile organic compounds) profile
  • Toxic metals

Metabolomic Study

Esoteric Enzyme assay

  • Fabry’s disease (α–galactosidase assay)
  • Pompe disease (acid α-glucosidase assay, glycogen quantitation)
  • Gaucher disease (β-glucosidase assay)
  • Gaucher disease monitoring (chitotriosidase assay)
  • Tay–Sachs disease (hexosaminidase B assay)
  • Sandhoff disease (hexosaminidase A assay)
  • Metachromatic leukodystrophy (arylsulfatase A assay)
  • Maroteaux-Lamy syndrome (arylsulfatase B assay)
  • Biotinidase deficiency (biotinidase assay)
  • Lesch-Nyhan syndrome (HGPRT assay)
  • APRT (adenosine phosphoribosyl transferase assay)
  • Niemann–Pick disease (sphingomyelinase assay)
  • Impaired gluconeogenesis disease (fructose-1, 6-bisphosphatase assay)
  • CNSHA (chronic non–spherocytic hemolytic anemia)
  • Glucose phosphate isomerase assay
  • Krabbe disease (β–galactosidase assay)
  • Galactosemia (enzyme assay : GALT, GALK, GALE / Gal–1–P quantitation)

Pharmacokinetic Study

  • Therapeutic drug monitoring
  • Bio-equivalence testing