Increase diagnostic confidence
Improve outcomes through clinically backed testing
More than 30 different genetic diseases are identified as forms of muscular dystropy (MD). Caused by variants in hundreds of genes, MD inheritance can be autosomal dominant, autosomal recessive, and X-linked recessive.
Among individuals affected by muscular dystrophy, the use of genetic testing to confirm diagnosis not only provides insights on prognosis and appropriate clinical care but can help with family planning. In addition, genetic testing can help patients and their providers access variant-specific therapies as well as help assess whether patients are eligible for clinical trials.
Mayo Clinic Laboratories offers a full suite of genetic testing to confirm and clarify genetic diagnosis of multiple forms of MD. Including comprehensive and focused panels as well as single gene analysis, our evaluations use next-generation sequencing to achieve full gene coverage, including both single nucleotide and copy number variations.
MDYSP | Inherited Muscular Dystrophy Gene Panel, Varies
LGCMP | Inherited Limb-Girdle Muscular Dystrophy and Congenital Myasthenic Syndrome Gene Panel, Varies
EDMDP | Inherited Emery-Dreifuss Gene Panel, Varies
DBMD | Duchenne/Becker Muscular Dystrophy, DMD Gene, Large Deletion/Duplication Analysis, Varies
DMDZ | DMD Gene, Full Gene Analysis, Varies