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 (~68%). Whole exon duplications are seen in ~10% of cases.
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.
|Deletion/duplication scanning||42 cd|
|Prenatal diagnosis||3 cd|
*Turn-round time in calendar days
Test validation & quality assurance - information for users
The mutation detection rate using the MLPA technique is approximately 78% of dystrophinopathies, 75% of Duchenne Muscular Dystrophy (DMD), and 88% of Becker Muscular Dystrophy (BMD) cases. Cases which do not show a deletion or duplication may be referred to another laboratory for point mutation scanning.
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
Please see our referral guidelines for more information.
OMIM Number(s) - 310200
Gene(s) - Dystrophin (DMD)