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
Includes random urine specimens. If ordering non‑electronically, complete and send a Biochemical Genetics Test Request (T798) form.
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.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 90784-0
- 30065-7
- 30048-3
- 30049-1
- 30062-4
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 |