Better Tests Available
for Duchenne, Becker MDs
The Medical Genetics Laboratories at Baylor College of Medicine in Houston are now offering full screening for mutations (flaws) in the dystrophin gene, which underlie Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).
Standard tests only detect about 60 percent of DMD-causing mutations in the dystrophin gene and an uncertain percentage of BMD-causing mutations. However, it’s become increasingly important for families to know exactly what mutation an affected member has, because such results may determine eligibility for a clinical trial, and may allow definitive prenatal and carrier testing.
The Baylor test, which was developed with MDA support of Madhuri Hegde in the Department of Molecular and Human Genetics, scans the dystrophin gene using denaturing high-pressure liquid chromatography (DHPLC), a process designed to detect almost all dystrophin mutations.
For more information, see the laboratory’s Web site at www.bcmgeneticlabs.org, or call (800) 411-GENE (4363).
Tests that examine the entire dystrophin gene are also offered at the Utah Genome Depot at the University of Utah in Salt Lake City (www.genome.utah.edu/DMD/clinical_test.shtml; [801] 581-6956); and City of Hope National Medical Center’s Clinical Molecular Diagnostic Laboratory in Duarte, Calif. (www.cityofhope.org/cmdl/DMD.asp; [888] 826-4362).
