DMD/BMD Mutation Screening 26 Exons – Comprehensive Genetic Testing for Muscular Dystrophy
Understanding DMD/BMD Mutation Screening
The DMD/BMD Mutation Screening 26 Exons test represents a cutting-edge genetic diagnostic tool designed to identify mutations in the dystrophin gene, which is responsible for both Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). These progressive neuromuscular disorders affect approximately 1 in 3,500-5,000 male births worldwide, making comprehensive screening essential for early detection and management.
This sophisticated genetic analysis examines all 26 exons of the DMD gene located on the X chromosome, providing a thorough assessment of potential deletions and duplications that can lead to these debilitating conditions. The test utilizes advanced Multiplex End Point PCR technology, ensuring high accuracy and reliability in detecting genetic abnormalities that conventional testing methods might miss.
What Does the Test Detect?
The DMD/BMD Mutation Screening 26 Exons test specifically targets:
- Complete or partial deletions in the dystrophin gene
- Gene duplications affecting muscle protein production
- Mutations across all 26 exons of the DMD gene
- Genetic variations responsible for both DMD and BMD
- Carrier status in female relatives
By analyzing the entire coding region of the dystrophin gene, this screening provides comprehensive coverage of potential mutation sites, offering patients and healthcare providers a complete picture of genetic risk factors.
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic screening is recommended for individuals presenting with:
- Progressive muscle weakness, particularly in the legs and pelvis
- Delayed motor milestones in childhood (walking, running, climbing)
- Frequent falls and difficulty rising from sitting position
- Enlarged calf muscles (pseudohypertrophy)
- Family history of muscular dystrophy or unexplained muscle disorders
- Elevated creatine kinase (CK) levels in blood tests
- Learning disabilities or cognitive concerns in males
- Female relatives of affected individuals for carrier testing
Key Benefits of DMD/BMD Mutation Screening
Undergoing comprehensive genetic testing offers numerous advantages:
- Early Diagnosis: Enables prompt intervention and management strategies
- Accurate Prognosis: Provides clear understanding of disease progression
- Family Planning: Informs reproductive decisions and genetic counseling
- Targeted Treatment: Supports development of personalized care plans
- Carrier Identification: Helps identify at-risk female relatives
- Peace of Mind: Reduces uncertainty and enables proactive healthcare
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of genetic specialists:
Possible Outcomes
- Negative Result: No detectable mutations in the 26 exons screened
- Positive for DMD Mutation: Indicates likelihood of Duchenne Muscular Dystrophy
- Positive for BMD Mutation: Suggests Becker Muscular Dystrophy diagnosis
- Carrier Status: Identifies females who carry the mutation but may not show symptoms
All positive results include detailed genetic counseling to help you understand the implications and next steps. Our genetic counselors will explain the inheritance patterns, recurrence risks, and available management options.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| DMD/BMD Mutation Screening 26 Exons | $250 |
| Discount Price | $188 |
Additional Test Information
- Turnaround Time: 4-5 business days
- Sample Type: Peripheral blood
- Test Components: EDTA Vacutainer (2ml)
- Methodology: Multiplex End Point PCR
- Prescription Requirements: Doctor’s prescription required (not applicable for surgery, pregnancy, or international travel cases)
Nationwide Testing Availability
General Genetics Corporation provides comprehensive DMD/BMD Mutation Screening services across the United States. We have conveniently located testing centers in:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and Illinois region
- Houston and Texas metropolitan areas
- Phoenix and Arizona locations
- All other major US cities and regions
Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location. We work with healthcare providers nationwide to make genetic testing accessible to all patients who need it.
Take Control of Your Genetic Health Today
Don’t let uncertainty about muscular dystrophy risk affect your quality of life. The DMD/BMD Mutation Screening 26 Exons test provides the clarity you need to make informed healthcare decisions and plan for the future.
Ready to schedule your test? Contact us now:
Phone: +1(267) 388-9828
WhatsApp: +1(267) 388-9828
Our genetic specialists are available to answer your questions, discuss testing options, and help you understand the process. Take the first step toward genetic clarity and peace of mind by booking your DMD/BMD Mutation Screening today.
