Information for molecular genetic testing of the DMD gene (Duchenne/Becker muscular dystrophy):
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.
Single and multi-exon deletion/duplication testing: Multiplex 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.
- Print out the information/billing and DNA testing consent form for Duchenne/Becker muscular dystrophy. You and your physician must fill out the form and send it along with the blood sample.
- Print out the UofU_blood_shipping_instructions and take them with you to your doctor or a blood drawing laboratory.
- Print out the CPT Codes for insurance claims.
- Deletion/Duplication analysis using Multiplex Probe Ligation and Amplification (MLPA): $500
- MLPA + Direct sequencing analysis: $1,200
- Direct sequencing analysis, only: $800
- Sequencing of a single exon: $250
(For family members of patients with previously detected mutations)
- You are responsible for the cost of the test and payment must accompany the sample. If you have insurance, you may be able to submit the bill for the test to your insurance company for reimbursement. We do not bill your insurance company. Payment must be made in US dollars
- It is possible that we will be unable to detect a mutation in the gene. You are still responsible for paying the costs of the test.
Your physician will receive results by e-mail and mail in approximately four (4) weeks.
If you have questions about this testing please contact Diane Dunn (Laboratory Supervisor) at (801) 585-3436.