DMD-MLPA (Duchenne/Becker muscular dystrophy)

DMD-MLPA (Duchenne/Becker muscular dystrophy)

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. This condition primarily affects males and is caused by mutations in the dystrophin gene located on the X chromosome. DMD is one of the most common types of muscular dystrophy, occurring in approximately 1 in every 3,500 to 5,000 male births. MLPA  is  a  molecular  testing  methodology  which  could detect   deletions   and   duplications   in   the   DMD   gene.   MLPA   for DMD involves multiple ligation-dependent probe amplification & analysis that can pick  deletions  &  duplications  with  98%  accuracy.

Individuals with DMD may experience respiratory difficulties, Cardiac issues, learning difficulties or developmental delays though their intelligence is typically unaffected.

At present, there is no cure for DMD.  However, various medical interventions and supportive therapies can help manage the symptoms and improve quality of life.  Ongoing research and clinical trials are focused on developing new treatments, including gene therapy and exon-skipping drugs, with the aim of ultimately finding a cure for DMD.

Sample Requirements

  • Blood (3-5 ml)
  • DNA (1-5 ug, 260/280 ratio=1.8-2.0)

The General Workflow For Whole Genome Sequencing include;

  • DNA isolation and Quality Check
  • Library Preparation
  • Sequencing
  • Bioinformatics analysis
  • Reporting

Methodology

  • MLPA

TAT

  • 2 Weeks

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