DMD Mutation Detection Kit

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DMD Mutation Detection kit-PCR based

Duchenne muscular dystrophy (DMD) is one of the most common genetic muscular dystrophies, with an estimated world-wide prevalence of approximately 1 in 3,500 males.

DMD is common X-linked recessive neuromuscular disorders that are associated with a spectrum of genetically-based developmental, cognitive, and behavioural disabilities. The DMD gene encodes for dystrophin protein which is a membrane- associated protein present in muscle cells. In DMD, the deletions result in disruption of the translational reading frame which prevents the production of a stable dystrophin protein and results in progressive loss of muscle. Large deletions are the most common type of mutations in the DMD gene.

Diagnosis of DMD

Mylab Discovery Solutions’ DMD screening kit allows multiplex PCR for rapid detection of deletions in dystrophin gene which is confirmed by agarose gel analysis. The kit provides the avenue for implementation of molecular diagnostics for prenatal diagnosis and prevention of genetic disorder by proper counselling in Indian population

The kit is intended for in vitro diagnostic use only and provides three sets of multiplex PCR primers used for amplification of 21 dystrophin exons. About 98% of DMD gene deletions can be detected by all three sets of primers.

Kit Features

  • Easy workflow with ready-to-use solutions for “Direct to customer” clinical lab tests
  • PCR based detection of major 21 exon deletions and analysis by gel electrophoresis
  • Detection of almost 98 % of DMD gene deletions
  • Inclusion of Globin gene targets as a quality control marker
  • Includes all the reagents required to perform sample to PCR run.
  • Robust and reproducible results with high performance

Kit Contents

  • Reagents for nucleic acid extraction
  • Reagents for PCR run
  • Quality Controls