Amino Acid Profile, Glycine Encephalopathy, Plasma and Cerebrospinal Fluid

CPT: 82136
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Test Details

Use

Diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).

Methodology

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

Reference Interval

Specimen Requirements

Specimen

Plasma, frozen and cerebrospinal fluid (CSF), frozen

Volume

0.5 mL plasma and 0.5 mL CSF

Minimum Volume

0.25 mL plasma and 0.25 mL CSF

Container

Plasma: green-top (heparin) tube and CSF: plastic transport tube, no preservative

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

Clinical Information

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.

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 700019 Glycine umol/L 20644-1
700200 Amino Acids, Glycine, Pl + CSF 700148 Glycine umol/L 22650-6
700200 Amino Acids, Glycine, Pl + CSF 700181 CSF:Plasma 73913-6
700200 Amino Acids, Glycine, Pl + CSF 700164 Interpretation 49303-1
700200 Amino Acids, Glycine, Pl + CSF 700165 Director Review 72486-4
700200 Amino Acids, Glycine, Pl + CSF 700166 Methodology 49549-9
700200 Amino Acids, Glycine, Pl + CSF 700220 Glycine, Plasma N/A
700200 Amino Acids, Glycine, Pl + CSF 700221 Glycine, CSF N/A

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CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2017, 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