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Duchenne Muscular Dystrophy (DMD)

Duchenne Muscular Dystrophy (DMD)

TESTING STRATEGY

Detection of deletions or duplications in the dystrophin gene in male patients by multiplex PCR and MLPA.

Dosage and linkage analysis for carrier detection in females by MLPA and microsatellite analysis.

SAMPLE REQUIREMENTS & REPORTING TIME

  • 5-10ml blood in EDTA, or DNA
  • 2 weeks

FURTHER INFORMATION / LINKS

Only 70-80% of affected males have a detectable deletion or duplication. Point mutation screening is available at Guy’s Hospital (cost involved).

Carrier detection by linkage is dependent on family structures.