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
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
unique genes offered in Mayo Clinic Laboratories’ hereditary neuropathy panel
genes included in our hereditary neuropathy panel have complementary functional testing
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.
Distal myopathy and peripheral neuropathy
Custom Gene Ordering Tool