Better DNA Test Finds Virtually All Duchenne, Becker Mutations

With support from the Muscular Dystrophy Association, a vastly improved test for mutations in the dystrophin gene, which underlie Duchenne and Becker muscular dystrophies, has been developed by investigators at Ohio State University in Columbus and the City of Hope National Medical Center in Duarte, Calif.

The test, called DOVAM for "detection of virtually all mutations," is said to detect some 90 percent of disease-causing mutations in DMD, compared to about 60 percent to 65 percent for the standard tests. A report on the new test is in the Aug. 28 issue of the journal Neurology.

Standard tests identify only missing pieces (deletions) in the gene, which account for about 65 percent of DMD cases and 80 percent of BMD cases.

Knowing the specific mutation underlying a disease like DMD allows families to determine carrier status of relatives with accuracy, have prenatal testing performed and enter studies that require specific identification of mutations. The new DOVAM test will probably result in fewer muscle biopsies being performed for diagnosis of DMD and BMD.

The approximately $1,000 cost of the DOVAM test may be covered by some insurance plans. Those interested in DOVAM testing can have a doctor or genetic counselor contact the Clinical Molecular Diagnostic Laboratory at City of Hope National Medical Center and request information or a blood sample collection kit, at (888) 826-4362 or cmdl@coh.org.