Sorbitol and Xylitol, Quantitative, Random, Urine
Use
This urinary assay measures sorbitol and xylitol levels to aid in the diagnosis of sorbitol dehydrogenase (SORD) deficiency–related peripheral neuropathy, a condition resembling Charcot–Marie–Tooth disease type 2 or distal hereditary motor neuropathy. Elevated urine polyols are diagnostic markers and suggest the need for confirmatory molecular genetic testing, particularly due to the complexity posed by the SORD2P pseudogene. ([mayocliniclabs.com](https://www.mayocliniclabs.com/test-catalog/overview/620920?utm_source=openai))
Special Instructions
Not provided.
Limitations
While an abnormal result is diagnostic of SORD deficiency–related neuropathy, confirmatory molecular analysis is strongly recommended due to potential complications in detecting variants caused by the SORD2P pseudogene. ([mayocliniclabs.com](https://www.mayocliniclabs.com/test-catalog/overview/620920?utm_source=openai))
New York Approved
Methodology
Mass Spectrometry (GC‑MS)
Biomarkers
Sorbitol
AnalyteXylitol
Analyte
LOINC Codes
- 74447-4 - Sugars+polyols Pnl Ur-sRto
- 59462-2 - Clinical biochemist review
- 48152-3 - Sorbitol/Creat Ur-sRto
- 48132-5 - Xylitol/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
2 mL
Minimum Volume
1 mL
Container
Plastic, 10‑mL urine tube
Collection Instructions
Collect a random urine specimen; no preservative; refrigerate immediately.
Causes for Rejection
All specimens will be evaluated for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 28 days |
| Frozen | 28 days |