Improve diagnostic yield and value    

A unique approach to differentiate disorders

Hereditary peripheral neuropathies are a diverse group of disorders with varying presentations and genetic causes. Although these disorders can sometimes be categorized by extent of weakness, sensory involvement, and/or autonomic involvements, overlapping phenotypes present difficulties in distinguishing inherited disorders from acquired or idiopathic forms of the illness.

Previous testing approaches required evaluating a large array of etiologies for possible acquired causes while simultaneously guessing which individual gene might be responsible, which resulted in low diagnostic yield and high costs. Increasingly, a comprehensive approach using next-generation sequencing (NGS) has proven to enable greater value in testing.

Meaningful results through a multidisciplinary approach

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

Using targeted capture techniques and unique reporting methods, our focused approach allows for optimal mutation detection. This process eliminates the risk of false negative results compared to whole-exome sequencing and other capture techniques. This provides 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, Next-Generation Sequencing (NGS), Blood

Useful for:

  • Diagnosing inherited peripheral neuropathies associated with known causal genes
  • Serving as a second-tier test for patients who previously tested negative for targeted gene variant analyses for specific inherited peripheral neuropathy-related genes
  • Identifying variants within genes known to be associated with inherited peripheral neuropathy, allowing for predictive testing of at-risk family members

Includes:

  • Peripheral Neuropathy Expanded Panel (193 genes)
    • 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)
    • SEPT9 Gene, Full Gene Analysis (1 gene)
    • Spastic Paraplegia Neuropathy Panel (41 genes)

Custom Gene Ordering Tool

Useful for:

  • Designing a patient-specific genetic panel
  • Ordering single gene testing
  • Adding specific genes to existing panels

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 these tests at your institution.