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Pediatric Metabolic Disease Laboratory


The Metabolic Disease Laboratory (MET) is primarily devoted to performing tests used to diagnose inborn errors of metabolism (IEM) and to monitor treatment of these diseases. Our testing in this arena includes amino acid analysis, organic acid analysis and acylcarnitine analysis. In addition to testing for IEM, we also perform esoteric testing that requires GC/MS, HPLC and tandem MS technology to perform, including a few steroid hormones, drug concentrations and VMA and HVA. We also perform research testing and continuously strive to develop new tests and adapt them for clinical use. 

Metabolic Tests

  • 17-Hydroxyprogesterone
  • 3-Hydroxy Fatty Acid analysis
  • Acylcarnitine
  • Amino Acid, Qualitative Screen
  • Amino Acid, Quantitative
  • Androstenedione
  • Carnitine, free and total
  • HVA, Homovanillic acid
  • Organic Acid
  • Pentobarbital
  • Testosterone, total
  • VMA, Vanillylmandelic acid
  • Voriconazole