Diagnosis and monitoring of inherited aminoacidurias, organic acidurias, and urea cycle defects. May be used as a follow-up confirmatory test to some abnormal newborn screen results. Limitations
Specimen Type
Blood
Container
Green Top Tube
Collection Instructions
Container/Tube: Green-top (heparin) tube(s) Specimen : 0.5 ml (minimum volume: 0.25 mL) of plasma Transport Temperature: Frozen Stability: 14 Days frozen Unstable Room Temperature or Refrigerated Collection Instructions: Fasting (4 hours or more in infants). Spin specimen down promptly. Send specimen in plastic vial.
Transport Instructions
Frozen
Specimen Stability
14 Days frozen Unstable Room Temperature or Refrigerated
Methodology
Liquid chromatography/tandem mass spectrometry (LC/MS-MS)