Amino Acid Profile, Glycine Encephalopathy, Plasma and Cerebrospinal Fluid

TEST: 700200
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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

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

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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The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf