The test is recommended both to confirm the clinical diagnosis in affected individuals and to determine healthy carrier status in women with elevated creatine kinase levels or in family members of affected individuals, for the purpose of informed family planning.

This test detects copy number alterations (deletions and duplications) in the dystrophin gene (DMD gene), which is responsible for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (DMB).

The test involves drawing a blood sample from which genomic DNA is extracted. The DMD gene is screened for mutations using MLPA technology.

Mutations in the DMD gene cause Duchenne muscular dystrophy (the severe form) or Becker muscular dystrophy (the milder form). Since this is an X-linked recessive disorder, a healthy female carrier has a 50% chance with each pregnancy of having affected sons and a 50% chance of having daughters who are carriers like her.

Results in 15 working days.

Analytical sensitivity and specificity > 99%.