Hereditary peripheral neuropathies

A unique approach to improve diagnostic yield and value

Hereditary peripheral neuropathies are quite varied in their presentations and even more diverse in terms of their specific genetic causes. While they can sometimes be framed in terms of the extent of weakness, sensory involvement, and/or autonomic involvements, it is difficult to discern the appropriate test for many patients. A comprehensive testing approach with next-generation sequencing has been studied to show greater value in testing, and is therefore recommended.

Furthermore, previous testing approaches required testing a huge list of etiologies for acquired possibilities, while at the same time trying to guess what individual gene may be most likely responsible. Those methods are extremely challenging, provide a low diagnostic yield, and result in high costs.

Extent of disease overlap

Meaningful results through a multidisciplinary approach

At Mayo Clinic, we integrate comprehensive genetic testing with a multidisciplinary team of clinical peripheral neuropathy experts, laboratory scientists, and genetic counselors to provide the highest standard for mutation detection.

Our targeted approach allows for optimal mutation detection and interpretation though targeted capture techniques and unique reporting methods. This process eliminates the risk of false-negative results compared to whole-exome sequencing and other capture techniques, which provide physicians with the confidence that disease-specific mutations have not been missed.

In addition, our custom gene ordering tool allows physicians to choose what genes they want and build custom panels to fit each patient's unique needs.

Which test should I order?

NPPAN | Peripheral Neuropathy Genetic Panels by Next-Generation Sequencing (NGS), Blood

  • Hereditary Motor Neuropathy Panel (23 genes)
  • Hereditary Sensory Neuropathy Panel (18 genes)
  • Metabolic or Syndromic Neuropathies (74 genes)
  • Motor and Sensory Neuropathy Panel (82 genes)
  • Peripheral Neuropathy Expanded Panel (193 genes)
  • SEPT9 Gene, Full Gene Analysis (1 gene)
  • Spastic Paraplegia Neuropathy Panel (41 genes)

Custom Gene-Ordering Tool (Custom Panels/Stand-Alone Gene Ordering)

Increasing Diagnostic Yield in Hereditary Peripheral Neuropathy

This webinar offers an educational overview of the large category of peripheral neuropathies, with a focus on identifying hereditary neuropathies. Various testing platforms and their strengths and weaknesses will be discussed in diagnosing affected patients. Cases will be used to illustrate the points.

Learn more about how to order this evaluation at your institution.