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.

Key testing

MDYSP    | Inherited Muscular Dystrophy Gene Panel, Varies

  • Uses NGS to evaluate 75 genes with known associations to muscular dystrophy.

LGCMP    | Inherited Limb-Girdle Muscular Dystrophy and Congenital Myasthenic Syndrome Gene Panel, Varies

  • Uses NGS to evaluate 65 genes with known associations to limb-girdle muscular dystrophy and congenital myasthenic syndrome.
  • Aligns with American Association of Neuromuscular and Electrodiagnostic Medicine clinical testing guidelines.

EDMDP    | Inherited Emery-Dreifuss Gene Panel, Varies

  • Uses NGS to evaluate seven genes with known associations to Emery-Dreifuss muscular dystrophy.  

DBMD    | Duchenne/Becker Muscular Dystrophy, DMD Gene, Large Deletion/Duplication Analysis, Varies

  • Confirms clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD).
  • Screens DMD large deletion/duplication carrier status.

DMDZ    | DMD Gene, Full Gene Analysis, Varies

  • Uses NGS to evaluate for mutations and copy number variations in the DMD gene to assist in diagnosis of Duchenne muscular dystrophy (DMD).

Learn more about how to order these tests at your institution.