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Duchenne/Becker muscular dystrophy genotyping

Indications: - Duchenne muscular dystrophy - Becker muscular dystrophy Specimen: 1) whole blood (ACD or EDTA) 2) store whole blood at 4 degrees C if nucleic acids cannot be extracted immediately 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

Related

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

General

genotyping (allele testing)

References

  1. Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed., W.B. Saunders, 1995
  2. ARUP Consult: Duchenne/Becker Muscular Dystrophy Deletion/Duplication with Reflex to Sequencing https://arupconsult.com/ati/duchenne-becker-muscular-dystrophy