Comparison of Testing Platforms

Parameter GC-MS MS/MS
Newborn specimen collected Urine:
  • Contains more than 3,000 detectable metabolites, with many in higher concentration than in blood
  • Non-invasive, safe, and simple for collection by parents or hospital staff
  • Though contains similar number of detectable metabolites as urine, many not in as high concentration than in urine
  • Invasive, painful, requires technical expertise, risk of infection
  • Certain metabolic disoreders do not alter blood amino acid or acylcarnitine profile, hence further testing is required to differentiate type o disorder
No. of metabolic disorders ("IEMs")that can be detected and quantified 100+ IEMs from 9 groups of IEMs
  • Acid and organic acid metabolism disorders
  • Sugar metabolism disorders
  • Fatty acid metabolism disorders
  • Peroxisomal disorders
  • Purine & pyrimidine metabolism disorders
  • Lactic acid, hyperpyruvic acid metabolic disorders
  • Other IEMs
40+ IEMs from 3 groups of IEMs
  • Amino acidemia
  • Organic acidemia
  • Fatty acid metabolism disorders
Biomarkers, i.e. no. of analyte profiles used Multiple markers used:
Highly specific, definitive interpretation from one single test
Mostly single marker used:
Non-specific, ambiguous – 2nd tier testing required
Time to diagnosis Faster:
From screening-cum-confirmation to diagnosis
From screening to confirmation then finally to diagnosis
Further confirmation required Screening and confirmation from one single test, though occasionally requires further confirmation via:
  • Enzyme assays
  • Genetic testing
Requires confirmatory test via:
  • GC-MS analysis
  • Enzyme assays
  • Genetic testing
Throughput Approximately 15 minutes per sample:
Total throughput of about 60 – 90 samples per machine in one day
Approximately 2 minutes per sample:
Total throughput of about 500 samples per machine in one day thus better for mass screening
  • Chromatography separates potential interfering compounds, such as drugs and exogenous chemicals
  • Acylcarnitine profiling not critical in GC-MS urinary analysis
Certain drugs and exogenous chemicals can interfere with acylcarnitine profile analysis e.g. valproic acid, cefotaxime, dextrose

Contact Us

Cordlife Medical Phils., Inc.
Unit 104, Building H,
U.P. Ayala Land TechnoHub
Commonwealth Avenue
Brgy. UP Campus,
Diliman Quezon City
Philippines 1101

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