| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
Unique Test Screens for Recently Identified Peripheral Neuropathy
Answers from the Lab
Sorbitol dehydrogenase (SORD) deficiency is a genetic condition that causes a recently identified peripheral neuropathy. In this test-specific episode of the "Answers From the Lab" podcast, Matthew Schultz, Ph.D., and Amy White, M.S., CGC, explain how Mayo Clinic Laboratories' unique urine assay (Mayo ID: SORD) screens for this common peripheral neuropathy.
"The most exciting part of this new assay is that potential treatments for the peripheral neuropathy are in development. SORD is certainly a condition to consider in patients with a suggestive presentation," Dr. Schultz says. "Clinical symptoms, which typically begin in childhood, include weakness, numbness, tingling, and limb pain."
The assay measures levels of two sugar alcohols — sorbitol and xylitol — that are known to be elevated in people with SORD. Although a positive test result is diagnostic for SORD deficiency, Mayo Clinic Laboratories recommends follow-up molecular testing.
"SORD provides a cost-effective and rapid option to test for a hereditary peripheral neuropathy, which is likely an underdiagnosed cause of symptoms," White says. "We also provide a full spectrum of expertly curated, phenotype-specific gene panels, as well as a complete autoimmune menu, to effectively diagnose and guide treatment for patients with peripheral neuropathy."
Listen to learn more about Mayo Clinic Laboratories' unique SORD test.
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