Hereditary neuromuscular disorders are quite varied in their presentations and even more diverse in terms of their specific genetic causes. Sometimes, these disorders can be framed in terms of the extent of weakness, sensory involvement, and/or autonomic involvements, but in other instances, it may be difficult to discern the appropriate test for many patients based on phenotype.
To help with these difficulties, Mayo Clinic has designed a comprehensive testing approach guided both by clinical algorithms and phenotypic information to ensure patients have access to the most cost-effective and clinically accurate genetic evaluations available.
Christopher Klein, M.D., a neurologist at Mayo Clinic, provides an overview of neuromuscular testing through Mayo Medical Laboratories. 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.
Neuromuscular Genetic Panels by Next-Generation Sequencing (NGS) (ID: NMPAN)
Test Catalog | Overview PDF
Many hospitals across the country have already established an account with Mayo Medical Laboratories. Please click on the links below to register for an account, sign in, or request an MML representative contact you to discuss your current account status and ordering options.
Registration for an account takes less than 10 minutes, and new accounts are typically processed and available in one business day. Once registered, sign in and locate the test in the Test Catalog and click the "Order This Test" button. Follow the prompts to provide billing and contact information. Print the test requisition form to ship with the specimen.