Amino Acid Profile, Quantitative, Cerebrospinal Fluid

Cerebrospinal fluid (CSF), frozen

0.5 mL

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

Plastic transport tube

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.

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 Food and Drug Administration.

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

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