Duchenne/Becker Muscular Dystrophy Panel

Panel description

Dystrophinopathies are muscular conditions caused by mutations in DMD, the gene responsible for an essential structural protein in the muscular system called dystrophin. The incidence of Duchenne muscular dystrophy is thought to be approximately 1 in 3,600 male live births.1  The incidence of all dystrophinopathies or the number of affected females is unknown. This panel is designed to detect both small-scale deletions or duplications and sequence-based mutations within DMD known to be associated with dystrophinopathies.

GENE INCLUDED: DMD

INDICATIONS FOR TESTING:

Panel overlap

The gene on this panel is also included on our Autism | Intellectual Disability | Multiple Anomalies Panel.


Recommended testing strategy

Tests below can be ordered individually, however a tiered testing strategy is recommended. Our laboratory’s Comprehensive Testing for dystrophinopathies includes the following two tests:


  1. Board, A. D. A. M. Editorial. “Duchenne Muscular Dystrophy.” Text, February 1, 2012.
  2. Darras, Basil T, David T Miller, and David K Urion. “Dystrophinopathies.” In GeneReviews®, edited by Roberta A Pagon, Margaret P Adam, Thomas D Bird, Cynthia R Dolan, Chin-To Fong, and Karen Stephens. Seattle (WA): University of Washington, Seattle, 1993.