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))