Amino Acid Analysis, Urine (Test 1200)

CPT Code(s):  82139, 82570

Service Code (IU Health): 53065470, 53065488

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, and the urea cycle.

Synonyms: UAA

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

Performed: Monday through Friday

Reported: 2-7 days

Patient Preparation: None required for urine collection

Specimen Type: frozen urine

Collect: Random clean catch urine collected in a container free of preservatives/additives.

Specimen Volume: 0.5 ml (minimum of 0.1 ml)

Storage: Must be stored at -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 not met.
• Sample fully thawed during shipment.
• Sample has evidence of lipemia or contamination with lotions, powders or other foreign substances. 

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

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

Limitations:

False negative results can occur in rare situations when diet, hydration status, and/or clinical condition masks or normalizes disease relevant analyte perturbations. For example, extremely dilute urine specimens (associated with low creatinine content) may challenge the detection of some disease related amino acid abnormalities. 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:

Scroll/swipe this table left and right to see more information.

*Value is a mol/mol ratio
**Value listed in mg/dL
***All other values stay in the current unit of measurement micromoles/gram of creatinine

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.