Hereditary neuromuscular disorders are 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.
A targeted phenotypic and algorithmic approach to diagnosis
Genetic testing is complex, and some approaches to next-generation sequencing have a greater risk of providing a false-negative result. Mayo Clinic’s targeted approach allows for optimal mutation detection and interpretation through targeted capture techniques and unique reporting methods. This process eliminates the risk of false-negative results compared to whole-exome sequencing and other capture techniques, which provides physicians with the confidence that disease-specific mutations have not been missed
Which test should I order?
Distal Myopathy + Peripheral Neuropathy
- Distal Weakness Expanded Panel (217 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)
Motor Neuron Disease
- Motor Neuron Disease Panel (17 genes)
- Congenital Myasthenic Syndromes Panel (25 genes)
Hyperexcitable Muscle Disease
- Skeletal Muscle Channelopathy Panel (6 genes)
A 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.