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Indiana University School of Medicine
Indiana University School of Medicine
Medical and Molecular Genetics

Amino Acid Analysis, Plasma (Test 1100)

CPT Code(s): 82139

Ordering Recommendation: This test is intended to be used in the detection and management of multiple different inborn errors of metabolism including those affecting amino acid metabolism/transport, organic acid metabolism, the urea cycle, and peroxisomal biogenesis.

Synonyms: PAA

Methodology: Liquid chromatography tandem mass spectrometry (LC-MS/MS).

Performed: Monday through Friday

Reported: 2-7 days

Specimen Requirements

Patient Preparation: Patient should avoid eating for at least two hours prior to having blood drawn. If patient is receiving total parenteral nutrition (TPN), it should be stopped for at least four hours prior to sample collection.

Specimen Type: plasma

Collection Tube (preferred): sodium heparin (dark green top)

Collection Tube (other acceptable): lithium heparin (light green top)

Processing: Separate plasma from whole blood, transfer to a plastic transport tube, and freeze as soon as possible. Avoid plasma processing delays of more than four hours.

Specimen Volume: 0.5 mL (minimum of 0.1 mL)

Storage: -20°C

Shipment: Ship frozen samples on 3-5 lbs of dry ice in an insulated container using an overnight courier.

Unacceptable Conditions:

  • Specimen requirements listed above are not met.
  • Sample has fully thawed during shipment.
  • Sample has excessive hemolysis or clotting.
  • Sample is collected in gel tube (plasma separator tube (PST) or serum separator tube (SST).

Stability: 30 days in freezer (-20°C) 

Interpretive Data

Interpretation: A brief interpretation of results is provided with each test.

Limitations:

False negative results can occur in rare situations when diet and/or clinical condition masks or normalizes disease relevant analyte perturbations. In addition, false negatives may occur when disease presentation is intermittent or the result of a mild defect.

Results should be viewed in the context of clinical presentation and concurrent laboratory studies. In the case of a new diagnosis, results should be confirmed with additional biochemical or molecular genetic testing.

This test was developed and its performance characteristics determined by Indiana University Biochemical Genetics Laboratory. It has not been cleared or approved by the U.S. Food and Drug Administration. This test is used for clinical purposes. It should not be regarded as investigational or for research. The laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA ’88) as qualified to perform high complexity clinical laboratory testing. CLIA # 15D0647198, CAP# 1678930

Reference Range:

  <= 7 days of age >7 days and <24 months of age 2-8 years of age 8-17 years of age >=18 years of age
Compound Low High Low High Low High Low High Low High
Alanine
 126   487   126   487   150 
 577 
 150 
 577 
 162 
 572 
Alloisoleucine 
 0 2 0 2 0 3 0 3 0 4
Alpha-aminoadipate   0 3 0 3 0 2 0 2 0 3
Alpha-amino-n-butyrate
 5
 30 5 30 7 32 7 32 7 36
Arginine 
 27
 137 
 27
 137 
 32 
 127 
 32 
 127 
 32 
 135 
Argininosuccinate   0 3 0 3 0 3 0 3 0 3
Asparagine 28 96 28 96 30 94 30 94 33 88
Aspartic 2 17 2 17 1 10 1 10 0 7
Citrulline 10 43 10 42 12 46 12 46 15 55
Creatine 10 110 10 110 10 110 10 110 10 110
Creatinine 29 
 86 
 17 
 54 
 19 
 53 
 29 
 97 
 40 
 116 
Glutamate
 29 199 29 199 20 137 20 137 16 134
Glutamine
 298 
 900 
 298 
 900 
 330 
 851 
 330 
 851 
 352 
 856
Glycine 116 
 396 
 116 
 396 
 139 
 423 
 139 
 423 
 129 
 479 
Guanidinoacetate
 0.4
 3.6
 0.4
 3.6
 0.4
 3.6
 0.4
 3.6
 0.4
 3.6
Histidine
 27 
 111 27 111 31 118 31 118 43 111
Homocitrulline 0 3 0 3 0 2 0 2 0 2
Homocystine 0 0.4
 0 0.4
 0 0.4
 0 0.4
 0 0.4
Hydroxyproline 9 66 9 66 8 40 8 40 4 32
Isoleucine
 28 116 28 116 29 111 29 111 32 110
Leucine 50 196 50 196 54 195 54 195 61 194
Lysine 60 242 60 242 71 240 71 240  99  267
Methionine 11 44 11 44 12 39 12 39 8 43
Ornithine 23 131 23 131 25 116 25 116 34 131
Phenylalanine 29
 92
 29
 92
 31 99 31 99 34 91
Pipecolate 0 9 0 9 0 4 0 4 0 7
Proline
 82 331 82 331 82 361 82 361 91 360
Sarcosine 0 5 0 5 0 5 0 5 0 5
Serine 67 238 67 238 66 190 66 190 56 166
Taurine
 34 158 34 158 36 140 36 140 36 144
Threonine 50 250 50 250 57 194 57 194 76 221
Tryptophan 20 85 20 85 23 90 23 90 26 85
Tyrosine 26 128 26 128 32 115 32 115 31 104
Valine 84 323 84 323 108 327 108 327 119 327

*All values in micromoles/L


References:

  1. Prinsen H.C.M.T, B.G.M. Schiebergen-Bronkhorst, M.W. Roeleveld, J.J.M. Jans,M.G.M de Sain-van der Velden, G. Visser, P.M. van Hasselt, N.M Verhoeven-Duif. “Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem massspectrometry”. J Inherit Metab Dis 39(5):651-660
  2. Griffin, C., Z. Ammous, G. H. Vance, B. H. Graham and M. J. Miller (2019). "Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry." J Chromatogr B Analyt Technol Biomed Life Sci 1128: 121786. 

Example report