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:
- Developmental delay
- Gross motor delay or loss of motor skills
- Low muscle tone
- Calf hypertrophy
- Abnormal gait
- Dilated cardiomyopathy
- Elevated serum CK
- Skeletal muscle biopsy showing decreased dystrophin quantity
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:
- Targeted Deletion/Duplication Analysis: Deletions and duplications involving the DMD gene are a more common cause of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy than sequence variations.2 Del/dup analysis can identify partial or whole gene deletions and duplications in the associated gene.
- Next Generation Sequencing: If no pathogenic aberrations are detected by del/dup analysis, NGS is performed.
- Board, A. D. A. M. Editorial. “Duchenne Muscular Dystrophy.” Text, February 1, 2012.
- 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.