Duchenne/Becker muscular dystrophy testing

Last updated: Wednesday, 11, March, 2009

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Item Process
Specimen

10 mL blood in EDTA tube.

MethodMultiplex PCR or MLPA analysis to detect a deletion in the dystrophin gene.
Application

Used in conjunction with creatine kinase in the diagnosis of Duchenne/Becker muscular dystrophy and in identifying female carriers.

Prenatal diagnosis for Duchenne muscular dystrophy may be available if the mother has been shown to be a carrier.

Interpretation

Deletions within the dystrophin gene account for approximately 65% of cases of Duchenne/Becker muscular dystrophy in boys.

These deletions can usually be identified in female carriers.

The identification of a deletion in the dystrophin gene in a symptomatic male is diagnostic of Duchenne/Becker muscular dystrophy.

The identification of a deletion in one dystrophin gene in a female is diagnostic of the carrier status.

Molecular genetic studies may be indicated in other family members. The absence of a deletion does not exclude the diagnosis and family studies may clarify a woman’s carrier status.

Reference

Laing NG et al. Med J Aust 1991; 154:14-18.