Duchenne and Becker Muscular Dystrophy

Introduction

Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease appearing during childhood. In Becker muscular dystrophy (BMD) symptoms are similar but less severe and appear later. DMD and BMD are caused by mutations in the dystrophin gene at Xp21. Whole exon deletions are the predominant type of mutation (~65%). Whole exon duplications are seen in ~10% of cases.

Referral information

We offer mutation screening for confirmation of a clinical diagnosis or suspicion of DMD or BMD. This may be followed up with carrier detection and prenatal diagnosis, as appropriate, with tests for a characterised mutation. Linkage analysis for carrier detection and prenatal diagnosis may be performed where there is a definite family history but a pathogenic mutation has not been identified.

Price & reporting times

NHS referrals to this service are paid for where there is an existing specialist commissioning contract for genetic testing. In other cases please contact the lab for prices.

Test TRT *
Deletion/duplication scanning 28 cd
Single mutation testing 28 cd
Prenatal diagnosis 3 cd
Linkage analysis 28 cd

*Turn-round time in calendar days

Test validation & quality assurance - information for users

The mutation detection rate using the MLPA technique is approximately 75% in clinically diagnosed males. Cases which do not show a deletion or duplication may be referred to another laboratory for point mutation scanning.

Sample requirements

Pre-natal: amniotic fluid (minimum 15ml)/chorionic villus biopsy (CVB) (minimum 10mg) sample plus 4ml EDTA maternal blood sample

Post-natal: 4ml EDTA blood sample

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 310200

Gene(s) - Dystrophin (DMD)

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