Duchenne/Becker muscular dystrophy genotyping

Indications

• Duchenne muscular dystrophy
• Becker muscular dystrophy

Clinical significance

• the majority of Duchenne muscular dystrophy is due to deletions in the dystrophin gene
• in-frame versus out-of-frame deletions are used to discriminate between Becker & Duchenne muscular dystrophies

Specimen

• whole blood (ACD or EDTA)
• store whole blood at 4 degrees C if nucleic acids cannot be extracted immediately

More general terms

• genotyping (allele testing)

Additional terms

• Becker muscular dystrophy
• Duchenne muscular dystrophy (pseudohypertrophic)
• dystrophin, DMD or BMD gene