Clinical Testing of Duchenne/Becker Muscular Dystrophy (DMD gene)

We test for deletions/duplications and point mutations in the DMD gene which cause Duchenne and Becker muscular dystrophy (see GeneReview). You will be responsible for the costs of having the blood drawn, and for shipping it by overnight courier to the University of Utah Genome Center. In order for your sample to be processed, you need to send along the information/billing and DNA testing consent form.

Methodology

Single and Multi-exon Deletion/Duplication TestingMultiplex Ligation-dependent Probe Amplification ( MLPA).

Point Mutations:bidirectional Sanger dideoxy sequencing of PCR amplicons ( SCAIP) spanning all coding regions and intron/exon boundaries of the DMD gene.

Fluorescence-based capillary electrophoresis is performed using an ABI 3730xl DNA Analyzer.

Costs

• $500 Deletion/Duplication analysis using Multiplex Probe Ligation and Amplification (MLPA)
• $1,200 MLPA + Direct sequencing analysis
• $800 Direct sequencing analysis only
• $250 Sequencing of a single exon (For family members of patients with previously detected mutations)

Results

Your physician will receive results by e-mail and mail in approximately approximately four (4) weeks.