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 phenotype-specific panels

Comprehensive inherited neuropathy panel

Additional testing

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.

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References

Klein, C., Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies. American Academy of Neurology. October 2020.

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