Pediatric Metabolic Diagnostics and Mass Spectrometry

Learn more about about this subspecialty

The Metabolic Diagnostics and Mass Spectrometry laboratory performs testing utilizing various mass spectrometry and chromatographic methods. The lab specializes in testing for inborn errors of metabolism using organic acid, amino acid, and acylcarnitine analyses. The lab also performs some steroid hormone analyses and specialized drug and toxicology testing 

Research endeavors include the development of novel proteomic/metabolic biomarker assays.

Test menu:

  • 17-hydroxyprogesterone (LC-MS/MS)
  • 2-hydroxyglutaric acid with differentiation of the D2 and L2 isomers (LC-MS/MS)
  • 3-hydroxy fatty acid analysis (GC/MS)
  • Acylcarnitine analysis (MS/MS)
  • Amino Acid, Qualitative Screen (HPLC)
  • Amino Acid, Quantitative (HPLC)
  • Androstenedione (LC-MS/MS)
  • Carnitine, free and total (MS/MS)
  • HVA, Homovanillic acid (GC/MS)
  • Organic Acid analysis (GC/MS)
  • Pentobarbital (GC/MS)
  • Testosterone, total (LC-MS/MS)
  • VMA, Vanillylmandelic acid (GC/MS)
  • Voriconazole (LC-MS/MS)
  • Comprehensive Drug Screen (LC-MS/TOF)


Dr. Jing Cao

Jing Cao, Ph.D.

Dr. Patricia Jones

Patricia M. Jones, Ph.D., DABCC

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