A focused phenotypic and algorithmic approach to diagnosis
Enabling confidence through expert-backed analysis
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.
The Mayo Clinic difference
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.
Hyperexcitable Muscle Disease
Motor neuron disease
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.