Mayo Clinic Laboratories > Neurology > Neurogenetics > Hereditary neuromuscular disorders

Hereditary Neuromuscular disorders

A phenotypic-directed testing approach

Mayo Clinic Laboratories’ distinctive approach to evaluating for inherited neuromuscular disorders uses phenotypic information to streamline diagnosis. Phenotype-specific panels enable targeted testing, improving diagnosis and minimizing uncertain results.

Our robust suite of genetic testing for inherited neuromuscular disorders includes both comprehensive and targeted next-generation sequencing (NGS) panels. Developed by an integrated team of clinicians, geneticists, and laboratory testing experts, our panels only include clinically relevant genes identified in literature and recommended in numerous professional clinical treatment guidelines. Use of NGS enables full gene coverage on all included genes and provides high sensitivity for the detection of both small and copy number variants.

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.

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