MLPA DMD

Rapid and Reliable test that detects deletions and duplications in the DMD gene.
Test Code
SLS14027
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What is MLPA DMD?

Multiplex Ligation-dependent Probe Amplification (MLPA) for Duchenne Muscular Dystrophy (DMD) is a screening test that can detect mutations in the DMD gene. DMD is a rare genetic disorder that primarily affects Boys/Men, whereas females are carriers. It is inherited in an X-linked recessive pattern, but spontaneous mutations can also occur. The condition is usually caused by deletions or duplications in the DMD gene, which encodes for the protein dystrophin that is essential for maintaining muscle integrity. Without sufficient dystrophin, muscle fibers are unable to function properly, leading to progressive muscular weakness and degeneration over time.

Genes Covered/No of Genes: 1
MLPA DMD

Who needs this test?

  • Boys with suspected DMD based on clinical symptoms (muscle weakness, delayed motor skills, elevated creatine kinase levels)
  • Females who are potential carriers of DMD, especially if there is a family history of the disorder
  • Families with a known history of DMD to confirm a diagnosis and determine carrier status
  • Families/cases undergoing prenatal testing when there is a risk of the fetus having DMD

How does MLPA help in confirming a DMD diagnosis?

  • Detects deletions and duplications: MLPA is highly effective at identifying deletions or duplications within the DMD gene, which account for a significant portion of DMD-causing mutations
  • Carrier detection: MLPA can identify female carriers of DMD, even if they don’t exhibit symptoms
  • Accurate and reliable: MLPA provides accurate and reliable results, aiding in the definitive diagnosis of DMD
  • Relatively fast: Compared to Whole Genome Sequencing (WGS), identification of DMD mutations using MLPA is relatively quicker
Methodology: MLPA

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