Hereditary Neuromuscular disorders
A new standard of testing for hereditary movement disorders
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 can identify variants 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 12% 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 variants.
News and updates
The latest
Zhiyv (Neal) Niu, Ph.D., and Christopher Klein, M.D., explain how Mayo Clinic Laboratories' updated neuromuscular gene panel informs diagnosis and treatment. The phenotype-based panel covers the complete list of neuromuscular genes and their variants.
Christopher Klein, M.D., discusses Mayo Clinic’s updated myasthenia gravis and Lambert-Eaton syndrome testing approach. Automatic reflex to second-line testing saves time and increases sensitivity and specificity to confirm diagnosis in patients with atypical presentation.
The diagnosis, pathological understanding, and current best treatment options for necrotizing autoimmune myopathy.
References
- Internal Mayo Clinic data.