Amino Acid Profile, Quantitative, Plasma
Use
Diagnosis and monitoring of inherited aminoacidurias, organic acidurias, and urea cycle defects. May be used as a follow-up confirmatory test to some abnormal newborn screen results.
Special Instructions
To avoid delays in turnaround time when requesting multiple tests on frozen samples, submit separate frozen specimens for each test requested. Plasma reference ranges will be applied to all specimen types.
Limitations
False-negative results can occur, especially when the patient has a mild or intermittent variant of a disorder or when the clinical condition or dietary treatment causes secondary changes to the profile. Interpretation of the results should consider clinical presentation and other laboratory tests. Certain amino acids may be falsely elevated or low, particularly in frozen serum.
Methodology
Mass Spectrometry
Biomarkers
LOINC Codes
- 35083-5
- 20657-3
- 20639-1
- 20647-4
- 20658-1
- 20656-5
- 20638-3
- 20642-5
- 20643-3
- 26613-0
- 26600-7
- 20655-7
- 20644-1
- 20636-7
- 20640-9
- 20634-2
- 20661-5
- 22672-0
- 20651-6
- 55876-7
- 26607-2
- 22670-4
- 20648-2
- 20649-0
- 20660-7
- 14875-9
- 32227-1
- 26604-9
- 26605-6
- 20646-6
- 26609-8
- 20659-9
- 26610-6
- 20652-4
- 20650-8
- 20645-8
- 20637-5
- 49247-0
- 72486-4
- 49549-9
Result Turnaround Time
3-6 days
Related Documents
For more information, please review the documents below
Specimen
Plasma
Volume
0.5 mL
Minimum Volume
0.15 mL
Container
Preferred: Frozen plasma from green-top (sodium heparin) tube. Acceptable: Frozen plasma from green-top (lithium heparin) tube, frozen plasma from lavender-top (EDTA) tube or frozen plasma from PPT™.
Collection Instructions
Separate plasma from cells. Transfer specimen to plastic transport tube before freezing.
Storage Instructions
Centrifuge, remove plasma from cells, and freeze immediately.
Causes for Rejection
Gross hemolysis; room temperature or thawed specimen; specimens collected in yellow-top (ACD) tubes
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unstable |
| Refrigerated | Unstable |
| Frozen | 14 days |
Other tests from different labs that may be relevant