Amino Acid Profile, Glycine Encephalopathy, Plasma and Cerebrospinal Fluid

CPT: 82136
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Special Instructions

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.


Expected Turnaround Time

3 - 5 days


Related Information


Specimen Requirements


Specimen

Plasma, frozen and cerebrospinal fluid (CSF), frozen


Volume

0.5 mL plasma and 0.5 mL CSF


Minimum Volume

0.15 mL plasma and 0.15 mL CSF (Note: This volume does not allow for repeat testing.)


Container

Preferred: Frozen plasma from green-top (sodium heparin) tube and CSF: plastic transport tube, no preservative. Acceptable: Frozen plasma from green-top (lithium heparin) tube, frozen plasma from lavender-top (EDTA) tube or frozen plasma from PPT™. Frozen serum from serum separator tube (SST) or frozen serum from red-top tube will not be rejected. Note: Plasma reference ranges will be applied to all specimen types.


Collection

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.


Storage Instructions

Plasma: Centrifuge, remove plasma from cells, and freeze immediately, CSF: freeze immediately.


Stability Requirements

Temperature

Period

Room temperature

Unstable

Refrigerated

Unstable

Frozen

14 days


Causes for Rejection

Gross hemolysis; room temperature or thawed specimen; specimens collected in ACD (yellow-top) tubes


Test Details


Use

Diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).


Limitations

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.


Methodology

Liquid chromatography/tandem mass spectrometry (LC/MS-MS)


Reference Interval


References

Bremer HJ, Duran M, Kamerling JP, et al. Disturbances of Amino Acid Metabolism: Clinical Chemistry and Diagnosis. Baltimore, Md: Urban and Schwarzenberg; 1981.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
700200 Amino Acids, Glycine, Pl + CSF 73913-6 700508 Glycine Plasma umol/L 20644-1
700200 Amino Acids, Glycine, Pl + CSF 73913-6 700509 Glycine CSF umol/L 22650-6
700200 Amino Acids, Glycine, Pl + CSF 73913-6 700512 CSF:Plasma 73913-6
700200 Amino Acids, Glycine, Pl + CSF 73913-6 700164 Interpretation 49303-1
700200 Amino Acids, Glycine, Pl + CSF 73913-6 700165 Director Review 72486-4
700200 Amino Acids, Glycine, Pl + CSF 73913-6 700166 Methodology 49549-9
700200 Amino Acids, Glycine, Pl + CSF 73913-6 700471 Disclaimer: N/A

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