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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.
False-negative results can occur, especially when a patient is affected with a mild or intermittent variant of a disorder or when clinical condition or dietary treatment causes secondary changes to the profile. Results of amino acid profiling should be interpreted in the context of clinical presentation, as well as other laboratory tests. Frozen serum may be diagnostic, however, certain amino acids may be falsely elevated or low.
This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).
Liquid chromatography/tandem mass spectrometry (LC/MS-MS)
See Plasma Amino Acid Reference Intervals in the Test Resources pages online.
Separate plasma from cells. Transfer specimen to plastic transport tube before freezing. To avoid delays in turnaround time when requesting multiple tests on frozen samples, please submit separate frozen specimens for each test requested.
Centrifuge, remove plasma from cells, and freeze immediately.
Causes for Rejection
Gross hemolysis; room temperature or thawed specimen; specimens collected in yellow-top (ACD) tubes