Amino Acid Profile, Quantitative, Cerebrospinal Fluid

CPT: 82139
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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.

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.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
700180 Amino Acid Profile, Qn, CSF 700141 Taurine umol/L 26614-8
700180 Amino Acid Profile, Qn, CSF 700142 Aspartate umol/L 22655-5
700180 Amino Acid Profile, Qn, CSF 700143 Threonine umol/L 22643-1
700180 Amino Acid Profile, Qn, CSF 700144 Serine umol/L 22644-9
700180 Amino Acid Profile, Qn, CSF 700145 Asparagine umol/L 26603-1
700180 Amino Acid Profile, Qn, CSF 700146 Glutamate umol/L 22652-2
700180 Amino Acid Profile, Qn, CSF 700147 Glutamine umol/L 22641-5
700180 Amino Acid Profile, Qn, CSF 700148 Glycine umol/L 22650-6
700180 Amino Acid Profile, Qn, CSF 700149 Alanine umol/L 22657-1
700180 Amino Acid Profile, Qn, CSF 700150 Citrulline umol/L 22654-8
700180 Amino Acid Profile, Qn, CSF 700151 Valine umol/L 22649-8
700180 Amino Acid Profile, Qn, CSF 700152 Cystine umol/L 22653-0
700180 Amino Acid Profile, Qn, CSF 700153 Methionine umol/L 22648-0
700180 Amino Acid Profile, Qn, CSF 700154 Isoleucine umol/L 22659-7
700180 Amino Acid Profile, Qn, CSF 700155 Leucine umol/L 9412-8
700180 Amino Acid Profile, Qn, CSF 700156 Tyrosine umol/L 22642-3
700180 Amino Acid Profile, Qn, CSF 700157 Phenylalanine umol/L 22646-4
700180 Amino Acid Profile, Qn, CSF 700158 Beta-alanine umol/L 26589-2
700180 Amino Acid Profile, Qn, CSF 700159 Gamma-aminobutyrate umol/L 26594-2
700180 Amino Acid Profile, Qn, CSF 700160 Ornithine umol/L 22647-2
700180 Amino Acid Profile, Qn, CSF 700161 Lysine umol/L 22651-4
700180 Amino Acid Profile, Qn, CSF 700162 Histidine umol/L 9453-2
700180 Amino Acid Profile, Qn, CSF 700163 Arginine umol/L 22656-3
700180 Amino Acid Profile, Qn, CSF 700164 Interpretation 49303-1
700180 Amino Acid Profile, Qn, CSF 700165 Director Review 72486-4
700180 Amino Acid Profile, Qn, CSF 700166 Methodology 49549-9
700180 Amino Acid Profile, Qn, CSF 700167 Amino Acid, CSF N/A

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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