Additional testing
Additional testing for inherited peripheral neuropathy
In addition to comprehensive testing and evaluations for prevalent peripheral neuropathies, we offer a full menu of testing for motor and sensory neuropathies, spastic paraplegia, amyloidosis, and brachial plexus, among other conditions. Expertly curated for phenotype-specific conditions, our testing uses targeted capture techniques, laboratory-developed confirmation criteria, and unique reporting methods.
OTHER TESTING FOR inherited peripheral neuropathy Test menu
Amyloidosis
Key testing
- TTRZ | TTR Gene, Full Gene Analysis, Varies
- Establishes molecular diagnosis for patients with amyloidosis.
- Identifies variants within TTR known to be associated with amyloidosis, allowing for predictive testing of at-risk family members.
brachial plexus
Key testing
- SEP9Z | SEPTIN9 Gene, Full Gene Analysis, Varies
- Establishes molecular diagnosis for patients with hereditary neuralgic amyotrophy.
- Identifies variants within SEPTIN9 known to be associated with hereditary neuralgic amyotrophy, allowing for predictive testing of at-risk family members.
Charcot-Marie-Tooth disease (CMT)
Key testing
- PMPDD | PMP22 Gene, Large Deletion/Duplication Analysis, Varies
- Assesses for large deletions and duplications in the PMP22 gene.
- SORD | Sorbitol and Xylitol, Quantitative, Random, Urine
- The preferred genetic test for assessing sorbitol dehydrogenase (SORD) deficiency-related hereditary peripheral neuropathy using a urine sample.
- Measures levels of two sugar alcohols — sorbitol and xylitol — that are known to be elevated in people with SORD deficiency.
- Mayo Clinic’s first clinically available biochemical assay diagnosing SORD deficiency through urine.
- SORDB | Sorbitol and Xylitol, Quantitative, Whole Blood
Highlights
Justin Fugelsang and Zach Pedowitz have never met. Yet both young men were diagnosed with a rare form of Charcot-Marie-Tooth disease, called sorbitol dehydrogenase (SORD) deficiency, and both found clarity through Mayo Clinic Laboratories' innovative SORD testing. Their journeys inspire resilience, as Justin has channeled his emotions into guitar playing, and Zach has embraced educational leadership.
Matthew J. Schultz, Ph.D., and Amy L. White, M.S., CGC, explain how Mayo Clinic Laboratories' unique urine assay (Mayo ID: SORD) screens for peripheral neuropathy arising from SORD gene variants. Although recently identified, SORD-related peripheral neuropathy is fairly common.
distal myopathy and peripheral neuropathy
Key testing
- DWPAN | Comprehensive Distal Weakness Gene Panel, Varies
- Evaluates 211 genes associated with distal weakness and deletion and duplication analysis for SMN1 and SMN2.
- Upon request, this test reflexes to Panel to Whole Exome Sequencing Reflex Test, Varies (Mayo ID: WESPR).
Sensory and motor testing
Key testing
- IMSNP | Inherited Motor and Sensory Neuropathy Gene Panel, Varies
- Evaluates 87 genes associated with hereditary motor and sensory neuropathy.
- IMNP | Inherited Motor Neuropathy Gene Panel, Varies
- Evaluates 24 genes associated with hereditary motor neuropathy and deletion and duplication analysis for SMN1 and SMN2.
- ISPP | Inherited Spastic Paraplegia Gene Panel, Varies
- Evaluates 128 genes associated with hereditary spastic paraplegia.
- ISNP | Inherited Sensory Neuropathy Gene Panel, Varies
- Evaluates 23 genes associated with hereditary sensory neuropathy.