Amino Acids Quantitative by LC-MS/MS, Urine
Also known as: URNAA QNT
Use
This test is used to screen for disorders of amino acid transport such as cystinuria, lysinuric protein intolerance, and HHH syndrome. It is also useful for evaluating renal tubular function. Common clinical indications include acute life-threatening episodes, failure to thrive, recurrent vomiting, neurological deterioration, hyperammonemia, lethargy, metabolic acidosis, and testing for specific inborn errors of metabolism like PKU, MSUD, and tyrosinemia, as well as kidney stones.
Special Instructions
First morning urine is preferred for collection. Submit with a Biochemical Genetic Testing Patient History Form, available online or by contacting ARUP Client Services, providing clinical information necessary for appropriate interpretation, including age, gender, diet (e.g., TPN therapy), drug therapy, and family history.
Limitations
The test is developed and its performance characteristics determined by ARUP Laboratories, not cleared or approved by the FDA. CLIA certified for clinical purposes, the test requires a critical frozen storage condition and a separate specimen submission for multiple tests ordered. Proper clinical correlation is necessary for interpreting results, especially for generalized aminoaciduria reflecting possible impaired renal tubular function.
New York Approved
Methodology
Mass Spectrometry
Biomarkers
LOINC Codes
- 30068-1
- 30062-4
- 28603-9
- 30061-6
- 30161-4
- 30065-7
- 30059-0
- 30056-6
- 30066-5
- 30047-5
- 28601-3
- 30052-5
- 30053-3
- 30048-3
- 30063-2
- 30049-1
- 30055-8
- 30067-3
- 30058-2
- 28595-7
- 30057-4
- 30054-1
- 30064-0
- 49248-8
- 28590-8
- 28598-1
- 32229-7
- 28602-1
- 28588-2
- 28605-4
- 28593-2
- 28610-4
- 28608-8
- 28596-5
- 28599-9
- 32248-7
- 30050-9
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
4 mL
Minimum Volume
3 mL
Container
ARUP Standard Transport Tubes
Collection Instructions
Collect random urine, preferably first morning urine. Avoid dilute urine if possible. Mix urine well before transferring.
Patient Preparation
First morning urine is preferred.
Storage Instructions
Freeze immediately after collection, as CRITICAL FROZEN storage is required.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unacceptable |
| Refrigerated | 24 hours |
| Frozen | 1 month |