DMD (MLPA Based 79 exons) With MCC

DMD (MLPA Based – 79 Exons) With MCC

Test Name: Duchenne/Becker Muscular Dystrophy (DMD) Gene – MLPA Based 79 Exons With MCC

About the Test

DMD is an X-linked genetic disorder caused by pathogenic variants in the DMD gene, which provides instructions for producing dystrophin, a protein essential for normal muscle function. The test uses Multiplex Ligation-dependent Probe Amplification (MLPA) to detect exon-level deletions and duplications across the 79 exons of the DMD gene.

Why is this Test Done?

The test may be recommended for:

• Suspected Duchenne Muscular Dystrophy (DMD)
• Suspected Becker Muscular Dystrophy (BMD)
• Unexplained progressive muscle weakness
• Elevated serum CK (Creatine Kinase) levels
• Family history of DMD/BMD
• Carrier testing in at-risk females
• Genetic evaluation and family counselling

What Does MLPA Detect?

MLPA can identify:

• Exon deletions
• Exon duplications
• Copy-number changes involving one or multiple DMD exons

Important: MLPA primarily detects copy-number changes. Small sequence variants may require additional testing such as DMD gene sequencing if MLPA is negative but clinical suspicion remains high.

MCC – Maternal Cell Contamination

MCC (Maternal Cell Contamination) testing is performed where applicable to assess whether maternal DNA has contributed to the tested specimen. This can help evaluate the reliability and interpretation of certain genetic test results, particularly in prenatal or fetal testing contexts.

Sample

Sample type: As per laboratory protocol
Method: MLPA
Target: DMD gene – 79 exons
Test category: Genetic / Molecular Diagnostics

Clinical Significance

A pathogenic deletion or duplication in the DMD gene can support a diagnosis of Duchenne or Becker muscular dystrophy. Results should be interpreted along with clinical findings, CK levels, family history and genetic counselling.

Note: A negative MLPA result does not completely exclude DMD-related disease; sequencing or other molecular investigations may be considered when clinically indicated.