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 Sources
Blood, ArterialBlood, CapillaryBlood, Central LineBlood, Venous
Specimen Types
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.
Specimen Volume
0.5 ml (minimum volume: 0.25 mL) of plasma
Transport Instructions
Frozen
Specimen Stability
14 Days frozen Unstable Room Temperature or Refrigerated
Methodology
Liquid chromatography/tandem mass spectrometry (LC/MS-MS)