Improve diagnostic yield and value    

Simplified, phenotypic-focused testing

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 autonomic involvement, overlapping phenotypes can make it difficult to distinguish inherited disorders from acquired or idiopathic forms.

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

Test menu

Parkinson's disease

Frontotemporal dementia

Hereditary movement disorders

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

Our comprehensive panel simplifies the diagnostic process by evaluating 186 genes with associations to peripheral neuropathies. Comprised only of clinically relevant genes, our panel was carefully vetted by a multidisciplinary team of neurologists and geneticists and includes 60 unique genes that enable an enhanced diagnostic yield over traditional testing approaches.

By the numbers

60

unique genes offered in Mayo Clinic Laboratories’ hereditary neuropathy panel

30

genes included in our hereditary neuropathy panel have complementary functional testing

10%

more cases identified based on evaluation of additional 60 genes2

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 confidence that disease-specific variants were not 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.

Key testing

PEPAN    | Comprehensive Peripheral Neuropathy Gene Panel, Varies

  • Establishes a molecular diagnosis for patients with peripheral neuropathy.
  • Uses next-generation sequencing to evaluate 186 genes with known associations to hereditary peripheral neuropathy.
  • Offers improved sensitivity of more than 99.9% for both small mutations and copy number variants on all genes and 94.7% on insertions/deletions.
  • Identifies variants within genes known to be associated with peripheral neuropathy, allowing for predictive testing of at-risk family members.

Additional testing

PMPDD    | PMP22 Gene, Large Deletion/Duplication Analysis, Varies

  • Assesses for large deletions and duplications in the PMP22 gene.

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.

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

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.

Distal myopathy and peripheral neuropathy

DWPAN    | Comprehensive Distal Weakness Gene Panel, Varies

  • Evaluates 211 genes associated with distal weakness and deletion and duplication analysis for SMN1 and SMN2.

Custom Gene Ordering Tool

CGPH    | Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies

Advantages:

  • Customizable and combinable.
  • Ability to design a patient-specific genetic panel.
  • Useful for single gene analysis.
  • Ability to add specific genes to existing panels.
  • Gene list IDs can be reused for multiple patients.
Learn more

Learn more about how to order these tests at your institution.

References

  1. Klein, C., Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies. American Academy of Neurology. October 2020.
  2. Internal Mayo Clinic data