Sorbitol and Xylitol, Quantitative, Random, Urine

Casandra

Casandra Test Code MC84611Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID SORDCPT Code 82542

Sorbitol and Xylitol, Quantitative, Random, Urine

Clinical Use

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

Patient age is required. It is recommended—but not required—to submit the Biochemical Genetics Patient Information form (T602). If ordering is not electronic, include either the Neurology Specialty Testing Client Test Request (T732) or Biochemical Genetics Test Request (T798). ([mayocliniclabs.com](https://www.mayocliniclabs.com/test-catalog/overview/620920?utm_source=openai))

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))

Test Details

New York Approved