A focused phenotypic and algorithmic approach to diagnosis
Genetic testing to identify hereditary neuromuscular disorders, which are varied in presentation and even more diverse in their specific genetic causes, can be complex. Mayo Clinic Laboratories’ distinctive approach to next-generation sequencing (NGS) enables optimal mutation detection and interpretation through targeted capture techniques, confirmation using laboratory-developed criteria, and unique reporting methods.
This process eliminates the risk of false negative results compared to whole-exome sequencing and other capture techniques, providing physicians with confidence that disease-specific mutations have not been missed.
Mayo Clinic’s board-certified laboratory directors, in collaboration with clinical neurologists, pathologists, and genetic counselors, provide the highest standard of testing for hereditary neuromuscular disorders. In instances of inconclusive skin, nerve, or muscle pathological evaluations, molecular genetic testing and mutation detection can identify variations for hereditary neuromuscular disorders. All detected variants are evaluated based on American College of Medical Genetics and Genomics recommendations.
Genetic counselors add value to proper test utilization by assisting with case review and coordination to ensure the most appropriate test is ordered. On average, genetic counselors modify 8% of all reviewed genetic test orders,1 reducing costs and enhancing patient care. Test results are reported with interpretive comments detailing the potential or known significance of detected variations.
Distal myopathy + Peripheral neuropathy
Distal Weakness Expanded Panel (217 genes)
Motor neuron disease
Motor Neuron Disease Panel (17 genes)
Myopathy Expanded Panel (141 genes)
Muscular Dystrophy Panel (77 genes)
Congenital Myopathy Panel (36 genes)
Metabolic Myopathy Panel (41 genes)
Myofibrillar Myopathy Panel (12 genes)
Distal Myopathy Panel (27 genes)
Emery-Dreifuss Panel (5 genes)
Rhabdomyolysis and Myopathy Panel (31 genes)
Myasthenic Syndromes Panel (25 genes)
Hyperexcitable muscle disease
Skeletal Muscle Channelopathy Panel (6 genes)
Test in Focus
Christopher Klein, M.D., a neurologist at Mayo Clinic, provides an overview of neuromuscular testing. He discusses which types of patients should be tested, the benefits of our approach, how this approach improves upon previous methods, and the role that functional assays play in diagnosis.
Learn more about how to order these tests at your institution.