A phenotypic-directed testing approach
Identify genetic causes through next-generation sequencing or enhanced diagnosis through next-generation sequencing
The emergence of advanced, molecular testing technologies has enhanced the detection of inherited, neuromuscular disorders. However, diverse presentation and varying genetic causes of these conditions often lead to lengthy diagnostic journeys when traditional testing strategies are used. Genetic testing to achieve molecular diagnosis of neuromuscular disease is integral to optimizing patient care.1
Mayo Clinic Laboratories’ distinctive approach to testing for genetic neuromuscular disorders uses phenotypic information to streamline diagnosis. Phenotype-specific panels enable targeted testing, improving diagnosis and minimizing uncertain results.
By the numbers
genes in our comprehensive panel
focused neurogenetic panels
single gene evaluations
Our robust suite of genetic testing for inherited neuromuscular disorders includes both comprehensive and targeted next-generation sequencing panels. Developed by an integrated team of clinicians, geneticists, and laboratory testing experts, our panels were carefully vetted to only include clinically relevant genes identified in literature and recommended in numerous professional clinical treatment guidelines.
Use of next-generation sequencing enables full gene coverage on all included genes and provides high sensitivity for the detection of both small and copy number variants. Our comprehensive genetic panel analyzes 215 genes associated with inherited neuromuscular diseases, including muscular dystrophy, myopathy, rhabdomyolysis, congenital myasthenic syndrome, skeletal muscular channelopathy, and mitochondrial syndromes, among others. Our focused panels span the array of neuromuscular illnesses including ataxia with neuropathy, myasthenia, and muscular dystrophy.
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 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 8% of all reviewed genetic test orders,2 reducing costs and enhancing patient care. Test results are reported with interpretive comments detailing the potential or known significance of detected variants.
Neuromuscular gene panel provides comprehensive analysis
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.
Hyperexcitable muscle disease
Motor neuron disease
Neuropathy and Neuromuscular Gene Panel Update
In this "Hot Topic," Christopher Klein, M.D., and Zhiyv (Neal) Niu, Ph.D., discuss how Mayo Clinic’s neuropathy and neuromuscular gene panels have enhanced patient care.