Amino Acid Profile, Quantitative, Cerebrospinal Fluid

CPT: 82139
Updated on 5/10/2018
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Test Details

Use

Diagnosis and monitoring of inherited aminoacidurias. Most notably, quantitation of amino acids in CSF is useful in the diagnosis of glycine encephalopathy. CSF samples are most informative when a plasma sample is collected at the same time and ratios of the amino acid concentrations in CSF to plasma are calculated.

Limitations

False-negative results can occur, especially when a patient is affected with a mild or intermittent variant of a disorder, or when clinical condition or dietary treatment causes secondary changes to the profile. Results of amino acid profiling should be interpreted in the context of clinical presentation as well as other laboratory tests.

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).

False-negative results can occur, especially when a patient is affected with a mild or intermittent variant of a disorder, or when clinical condition or dietary treatment causes secondary changes to the profile. Results of amino acid profiling should be interpreted in the context of clinical presentation as well as other laboratory tests.

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False-negative results can occur, especially when a patient is affected with a mild or intermittent variant of a disorder, or when clinical condition or dietary treatment causes secondary changes to the profile. Results of amino acid profiling should be interpreted in the context of clinical presentation as well as other laboratory tests.

<p>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).

Methodology

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

Reference Interval

See Cerebrospinal Fluid Amino Acid Reference Intervals in the Test Resources pages online.

Specimen Requirements

Specimen

Cerebrospinal fluid (CSF), frozen

Volume

0.5 mL

Minimum Volume

0.25 mL

Container

Plastic transport tube

Collection

To avoid delays in turnaround time when requesting multiple tests on frozen samples, please submit separate frozen specimens for each test requested.

Storage Instructions

Freeze.

Stability Requirements

Temperature

Period

Room temperature

Unstable

Refrigerated

Unstable

Frozen

14 days

Causes for Rejection

Gross contamination with blood; room temperature or thawed specimen

Clinical Information

References

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

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