S‑Sulfocysteine Panel, Random, Urine
Use
Useful for diagnosis of molybdenum cofactor deficiency, isolated sulfite oxidase deficiency, and hereditary xanthinuria, and for monitoring patients with these conditions during treatment. Elevated S‑sulfocysteine may indicate MoCD or ISOD; hypoxanthine and uric acid levels vary depending on disorder type. Hereditary xanthinuria is indicated by increased xanthine and decreased uric acid in urine. Confirmation may require molecular or enzyme testing of genes such as MOCS1, MOCS2, MOCS3, GPHN, SUOX, XDH, or MOCOS.
Special Instructions
Not provided.
Limitations
Additional confirmatory testing via enzyme assays and molecular genetic testing is required for follow‑up of abnormal results.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 94397-7 - SSC HypoXan Xan Urate Pnl Ur
- 59462-2 - Clinical biochemist review
- 38366-1 - Hypoxanthine/Creat Ur-sRto
- 38371-1 - Xanthine/Creat Ur-sRto
- 34385-5 - Urate/Creat Ur-sRto
- 33876-4 - Sulfocysteine/Creat Ur-sRto
- 18771-6 - Provider signing name
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
3 mL
Minimum Volume
2 mL
Container
Plastic, 10‑mL urine tube
Collection Instructions
Collect a random urine specimen.
Causes for Rejection
Specimen suitability evaluated by laboratory; all specimens will be evaluated at Mayo Clinic Laboratories for test suitability
Stability Requirements
| Temperature | Period |
|---|---|
| Frozen | 90 days |