CCDHB Logo

Duchenne Muscular Dystrophy & Becker Muscular Dystrophy

Background

Deletions and duplications of the DMD gene are frequent causes of DMD/BMD. Deletions account for 60-70% and duplications about for 5-10% of cases. Detection of these imbalances are routinely used in diagnostic testing of individuals symptomatic or those that are at risk of being carriers. DMD has a prevalence of 2.9 per 10,000 male births and BMD has a prevalence of 0.5 per 10,000 male births.
 

Testing at WRGL

Multiplex ligation-dependent probe amplification (MLPA) using the two commercially available probe sets (P034-B1 and P035-B2) is used to determine if there is a deletion or duplication present. The MLPA product can be visualised using fragment analysis on the 3130 Genetic Analyser. Results are compared with appropriate controls. A small proportion of cases will require further testing which is not offered at WRGL and samples will be forwarded to another laboratory if additional testing is required/necessary.
 

Cost, Sample Requirements & Turnaround Times

Test

Cost NZD*

Sample Requirements

Current TAT

DMD/BMD $284 4 ml of whole blood in EDTA
(purple top)
2 weeks
For urgent cases please contact the laboratory


*No direct charge for the central region DHBs covered by the Crown Funding Agreement

DMD & BMD

ABOUT US

Wellington Regional Genetics Laboratory (WRGL) provides a comprehensive, integrated diagnostic cytogenetic and molecular genetic testing service

btn find
 
f1
 

CONTACT US

(04) 918-5352
wrgl@ccdhb.org.nz