DMD gene analysis

DMD Gene Analysis 

Test Name: DMD Gene Analysis
Sample Type: Blood
Method: Molecular Genetic Analysis
Gene: DMD (Dystrophin)

About the Test

DMD Gene Analysis is a genetic test used to identify disease-causing variants in the DMD gene, which provides instructions for producing dystrophin, a protein essential for maintaining muscle cell integrity.

Clinical Indications

• Suspected Duchenne Muscular Dystrophy (DMD)
• Suspected Becker Muscular Dystrophy (BMD)
• Progressive muscle weakness
• Delayed motor milestones or difficulty walking
• Elevated serum CK levels
• Family history of DMD/BMD
• Genetic evaluation of female relatives or potential carriers

What Does the Test Detect?

Depending on the test methodology, analysis may identify:

• Deletions and duplications within the DMD gene
• Small sequence variants such as SNVs and small insertions/deletions
• Other pathogenic genetic changes, when covered by the selected testing approach

Why Is It Important?

A confirmed genetic diagnosis can help with:

• Establishing the molecular cause of muscle weakness
• Differentiating DMD/BMD from other muscular disorders
• Family and carrier-risk assessment
• Genetic counselling and reproductive planning
• Supporting appropriate clinical management

Result Interpretation: Results should be interpreted along with clinical findings, CK levels, family history, and other investigations by a qualified healthcare professional.