Amino Acid Analysis, LC/MS, Urine
Test Code
Clinical Significance
Amino Acid Analysis, LC/MS, Urine - Amino acid analysis is necessary for the diagnosis of a variety of inborn errors of metabolism. These include, but are not limited to, phenylketonuria, tyrosinemia, citrullinemia, non-ketotic hyperglycinemia, maple syrup urine disease, and homocystinuria. The assay is also key for the continued monitoring of treatment plans for these disorders and useful for assessing nutritional status of patients. Our methodology is highly accurate at very low levels as well as at elevated levels.
Test Resources
Test Summary
Amino Acid AnalysisTest Details
Methodology
Liquid Chromatography/Mass Spectrometry (LC/MS)
Reference Range(s)
Preferred Specimen(s)
2 mL random urine - no preservative
Minimum Volume
0.5 mL
Collection Instructions
Do not use preservatives. Urine with a pH <2.0 will be rejected.
Patient age is required for correct interpretation. Provide patient age (required for correct reference range), sex, a brief clinical history, tentative diagnosis, and the therapy over the last three days (drugs, X-ray, infant formula, diet).
Transport Container
Plastic urine container
Transport Temperature
Frozen
Specimen Stability
- Room temperature: Unacceptable
Refrigerated: 7 days
Frozen: 28 days
Reject Criteria
Received room temperature • pH <2.0
Setup Schedule
Patient age is required for correct interpretation. Provide patient age (required for correct reference range), sex, a brief clinical history, tentative diagnosis, and the therapy over the last three days (drugs, X-ray, infant formula, diet).
Refrigerated: 7 days
Frozen: 28 days