Mayo Clinic Laboratories > Neurology > Neurogenetics > Hereditary peripheral neuropathy

Hereditary peripheral neuropathy

Simplified, phenotypic testing

Hereditary peripheral neuropathies are a diverse group of disorders with varying presentations and genetic causes. These disorders can sometimes be categorized by extent of weakness, sensory involvement, and autonomic involvement; however, overlapping phenotypes make it difficult to distinguish inherited disorders from acquired forms.

A comprehensive testing approach using next-generation sequencing (NGS) can help establish whether a peripheral neuropathy is genetic in nature. Genetic diagnosis not only helps direct gene-specific therapies, but it is critical to advance pathologic understanding and the development of gene therapies.1

Our hereditary peripheral neuropathy test menu includes both comprehensive and targeted NGS panels to assist in identifying genetic causes across the spectrum of peripheral neuropathies.

186

186 genes interrogated on our comprehensive panel

3

3 phenotype-specific panels  

Comprehensive inherited neuropathy panel Comprehensive inherited neuropathy panel
Comprehensive inherited neuropathy panel

Comprised of 186 clinically relevant genes with associations to peripheral neuropathies, including 60 unique genes that provide an enhanced diagnostic yield, our comprehensive panel simplifies the diagnostic process.

Frontotemporal dementia and ALS Frontotemporal dementia and ALS
Frontotemporal dementia and ALS

Offering both targeted panels and single gene evaluations, our frontotemporal dementia and amyotrophic lateral sclerosis evaluations use NGS to provide increased sensitivity for improved coverage.

Other testing Other testing
Other testing

Including single gene evaluations and focused panels to identify motor and sensory neuropathies, spastic paraplegia, amyloidosis, and brachial plexus, among other conditions, our robust menu of peripheral neuropathy enables full-spectrum testing in one laboratory location.

Meaningful results through an integrated approach

Mayo Clinic Laboratories’ hereditary neuropathy testing is backed by a multidisciplinary team of clinical peripheral neuropathy experts, laboratory scientists, and genetic counselors to provide the highest standard for variant detection.

Using NGS techniques and unique interpretive reporting methods, our approach allows for optimal variant detection. This process reduces the risk of false negative results compared to whole exome sequencing and other capture techniques, providing physicians with confidence that disease-specific variants were not missed.

News and updates

The latest

Assay identifies most known membranous nephropathy antigens: Sanjeev Sethi, M.D., Ph.D.

Sanjeev Sethi, M.D., Ph.D., explains how Mayo Clinic Laboratories' new mass spectrometry test (Mayo ID: MSMN) identifies most antigens now known to cause membranous nephropathy. Precise identification of antigens is important for optimal management of this serious kidney disease.

Learn more
Myasthenia Gravis [Test in Focus]

Christopher Klein, M.D., discusses Mayo Clinic’s updated myasthenia gravis and Lambert-Eaton syndrome testing approach. Automatic reflex to second-line testing saves time and increases sensitivity and specificity to confirm diagnosis in patients with atypical presentation.

Improved Diagnosis of Necrotizing Autoimmune Myopathy by Combinatorial Immune Assays

This “Specialty Testing” webinar will discuss the diagnosis, pathological understanding, and current best treatment options for necrotizing autoimmune myopathy.

References
  1. Klein, C., Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies. American Academy of Neurology. October 2020.
INTERESTED IN LEARNING MORE?

Fill out the form below and one of our specialists will be in touch.

(BETA) Choose a language to view this content in:
About the translation.