DUCHENNE BECKER MUSCULAR DYSTROPHY, EDTA BLOOD

This test detects mutations in the DMD gene associated with Duchenne and Becker Muscular Dystrophy, both of which cause progressive muscle weakness and wasting.

This test is recommended for:

• Boys with delayed milestones, frequent falls, or muscle weakness.
• Individuals with a family history of muscular dystrophy.
• Carrier screening for women with a family history of DMD/BMD.

A blood sample is analyzed using multiplex PCR or next-generation sequencing (NGS) to identify deletions, duplications, or mutations in the DMD gene.

• Positive for Mutation: Confirms Duchenne or Becker Muscular Dystrophy.
• Negative for Mutation: Rules out these conditions, but further testing may be needed.

Early diagnosis enables timely intervention, supportive therapies, and genetic counseling for affected families.