Muscular Dystrophies Panel
- Muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. They are caused by incorrect or missing genetic information that prevents the body from making the proteins needed to build and maintain healthy muscles (1). Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery (2). Duchenne’s Muscular dystrophy (DMD) occurs because the mutated gene fails to produce virtually any functional dystrophin. DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is located on the X chromosome (3).
- Genes (35): ANO5, CAPN3, CAV3, DAG1, DES, DMD, DNAJB6, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, GMPPB, HNRNPDL, LMNA, MMEL1, MYOT, PLEC, POMGNT1, POMT1, POMT2, PTRF, SGCA, SGCB, SGCD, SGCG, SYNE1, SYNE2, TCAP, TMEM43, TNPO3, TRAPPC11, TRIM32, and TTN
Test Code: 5005
• Molecular confirmation of a clinical diagnosis in symptomatic patients.
• Assessment for at-risk family members
Test Info Sheet: Muscular Dystrophies Panel
Requisition: Contact ApolloGen Diagnostic Laboratory
- Turn-Around Time: 4 Weeks
Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
Other Specimens: See details here
- CPT Codes: 81404×4, 81405×8, 81406×7, 81408×2, 81479×15
Pricing: Please contact us at (949) 916-8886 or email@example.com
- Methodology: Next-Generation Sequencing (NGS)