Muscular dystrophy

Our full suite of genetic assays can confirm and clarify genetic diagnosis of multiple forms of muscular dystrophy. 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
  • Evaluates 75 genes with known associations to muscular dystrophy.
• LGCMP | Inherited Limb-Girdle Muscular Dystrophy and Congenital Myasthenic Syndrome Gene Panel, Varies
  • Evaluates 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
  • Evaluates 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
  • Evaluates for mutations and copy number variations in the DMD gene to assist in diagnosis of DMD.