Amino Acid Analysis, LC/MS, Urine
Use
Amino acid analysis is necessary for the diagnosis of a variety of inborn errors of metabolism, including but not limited to phenylketonuria, tyrosinemia, citrullinemia, non‑ketotic hyperglycinemia, maple syrup urine disease, and homocystinuria. The assay is also key for continued monitoring of treatment plans for these disorders and useful for assessing nutritional status of patients. ([jdos.nicholsinstitute.com](https://jdos.nicholsinstitute.com/dos/AAMC/test/419088?utm_source=openai))
Special Instructions
Patient age is required for correct interpretation. Provide sex, brief clinical history, tentative diagnosis, and therapy over the last three days (e.g., drugs, X‑ray, infant formula, diet). Do not use preservatives. Urine with pH <2.0 will be rejected. ([jdos.nicholsinstitute.com](https://jdos.nicholsinstitute.com/dos/AAMC/test/419088?utm_source=openai))
Limitations
Not provided.
Methodology
Mass Spectrometry
Biomarkers
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
2 mL random urine
Minimum Volume
0.5 mL
Container
sterile plastic leak‑proof container
Collection Instructions
Do not use preservatives. Patient age, sex, clinical history, tentative diagnosis and therapy over the last three days required.
Causes for Rejection
Urine with pH <2.0 or room temperature received.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unacceptable |
| Refrigerated | 7 days |
| Frozen | 28 days |