Skip to main content

Amino Acid Profile, Glycine Encephalopathy, Plasma and Cerebrospinal Fluid

CPT 82136

Test Details

Methodology

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

Result 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

Use

Diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).

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.

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.

References

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

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 Instructions

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.

Stability Requirements

Temperature

Period

Room temperature

Unstable

Refrigerated

Unstable

Frozen

14 days

Reference Range

Storage Instructions

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

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
Order Code700200
Order Code NameAmino Acids, Glycine, Pl + CSF
Order Loinc73913-6
Result Code700508
Result Code NameGlycine Plasma
UofMumol/L
Result LOINC20644-1
Order Code700200
Order Code NameAmino Acids, Glycine, Pl + CSF
Order Loinc73913-6
Result Code700509
Result Code NameGlycine CSF
UofMumol/L
Result LOINC22650-6
Order Code700200
Order Code NameAmino Acids, Glycine, Pl + CSF
Order Loinc73913-6
Result Code700512
Result Code NameCSF:Plasma
UofM
Result LOINC73913-6
Order Code700200
Order Code NameAmino Acids, Glycine, Pl + CSF
Order Loinc73913-6
Result Code700164
Result Code NameInterpretation
UofM
Result LOINC49303-1
Order Code700200
Order Code NameAmino Acids, Glycine, Pl + CSF
Order Loinc73913-6
Result Code700165
Result Code NameDirector Review
UofM
Result LOINC72486-4
Order Code700200
Order Code NameAmino Acids, Glycine, Pl + CSF
Order Loinc73913-6
Result Code700166
Result Code NameMethodology
UofM
Result LOINC49549-9
Order Code700200
Order Code NameAmino Acids, Glycine, Pl + CSF
Order Loinc73913-6
Result Code700471
Result Code NameDisclaimer:
UofM
Result LOINCN/A