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Pediatric Metabolic Diagnostics and Mass Spectrometry

Lab Requisition FormResidency Program

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)
  • Acylcarnitine analysis (MS/MS)
  • Amino Acid, Quantitative (HPLC)
  • Androstenedione (LC-MS/MS)
  • Carnitine, free and total (MS/MS)
  • Comprehensive Drug Screen (LC-MS/TOF)
  • HVA, Homovanillic acid (GC/MS)
  • Itraconazole/hydroxy-itraconazole
  • Matrix Metalloproteinase-7 (MMP-7)
  • Organic Acid analysis (GC/MS)
  • Pentobarbital (GC/MS)
  • Posaconazole
  • Testosterone, total (LC-MS/MS)
  • VMA, Vanillylmandelic acid (GC/MS)
  • Voriconazole (LC-MS/MS)

Faculty

Jing Cao

Jing Cao, Ph.D.

Assistant Professor

Patricia M. Jones

Patricia M. Jones, Ph.D., DABCC

Professor

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