Cystinuria Profile, Quantitative, Random, Urine
Use
Biochemical diagnosis of cystinuria through measurement of elevated urinary cystine, lysine, ornithine, and arginine; helps distinguish homozygous/compound heterozygous individuals (high excretion of all dibasic amino acids) from heterozygotes (elevated cystine and lysine relative to arginine and ornithine).
Special Instructions
Not provided.
Limitations
None significant noted; interpretation may vary due to specimen collection or handling issues; urinary excretion patterns may overlap between heterozygous and non-type I cystinuria.
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 90784-0 - Cystinuria Pnl Ur
- 30065-7 - Cystine/Creat Ur-Rto
- 30048-3 - Lysine/Creat Ur-Rto
- 30049-1 - Ornithine/Creat Ur-Rto
- 30062-4 - Arginine/Creat Ur-Rto
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
2 mL
Minimum Volume
1 mL
Container
Urine Tubes, 10 mL (T068)
Collection Instructions
Collect a random urine specimen.
Causes for Rejection
All specimens evaluated for test suitability by Mayo Clinic Laboratories.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 14 days |
| Frozen | 70 days |
