Duchenne/Becker muscular dystrophy testing
Last updated: Wednesday, 11, March, 2009
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| Item | Process |
|---|---|
| Specimen | 10 mL blood in EDTA tube. |
| Method | Multiplex 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. |