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Amino Acid Profile, Glycine Encephalopathy, Plasma and Cerebrospinal Fluid
Diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).
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)
Plasma, frozen and cerebrospinal fluid (CSF), frozen
0.5 mL plasma and 0.5 mL CSF
0.25 mL plasma and 0.25 mL CSF
Plasma and CSF should be simultaneously collected (venipuncture immediately prior to lumbar puncture). 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.
Plasma: Centrifuge, remove plasma from cells, and freeze immediately, CSF: freeze immediately.
Causes for Rejection
Gross hemolysis; room temperature or thawed specimen; specimens collected in ACD (yellow-top) tubes
For plasma and cerebrospinal fluid collected more than 20 minutes, order Amino Acid Profile, Quantitative, Plasma (700068) or Amino Acid Profile, Quantitative, Cerebrospinal Fluid (700180). To discuss amino acid testing options, please call 1-800-345-GENE and ask to speak to a Biochemical Geneticist.