Duchenne Becker Muscular Dystrophy DMD BMD Gene Mutation Test
Comprehensive Genetic Testing for Muscular Dystrophy
The Duchenne Becker Muscular Dystrophy DMD BMD Gene Mutation Test represents a breakthrough in genetic diagnostics for neuromuscular disorders. This advanced molecular test specifically targets the dystrophin gene (DMD), which plays a critical role in maintaining muscle cell integrity and function. When mutations occur in this gene, they can lead to either Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (BMD), both progressive conditions affecting muscle strength and mobility.
What This Test Measures and Detects
Our specialized genetic test employs MLPA (Multiplex Ligation-dependent Probe Amplification) technology to comprehensively analyze the DMD gene for:
- Large-scale deletions in the dystrophin gene
- Gene duplications affecting protein production
- Specific mutation patterns that differentiate DMD from BMD
- Genetic variations that impact dystrophin protein function
- Inheritance patterns for family genetic counseling
Who Should Consider This Genetic Test
This test is recommended for individuals experiencing:
- Progressive muscle weakness beginning in childhood
- Delayed motor milestones (walking, running, climbing)
- Frequent falls and difficulty rising from sitting position
- Enlarged calf muscles (pseudohypertrophy)
- Elevated serum creatine kinase (CK) levels
- Family history of muscular dystrophy or unexplained muscle disorders
- Boys with developmental delays and muscle-related symptoms
- Carrier testing for female relatives of affected individuals
Clinical Benefits of Genetic Testing
Undergoing the Duchenne Becker Muscular Dystrophy genetic test provides numerous advantages:
- Definitive Diagnosis: Confirm or rule out DMD/BMD with high accuracy
- Early Intervention: Enable timely medical management and therapy
- Family Planning: Provide crucial information for genetic counseling
- Treatment Guidance: Inform appropriate therapeutic approaches
- Prognostic Information: Understand disease progression expectations
- Carrier Identification: Detect asymptomatic female carriers
- Research Contribution: Support ongoing muscular dystrophy studies
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert molecular diagnosticians:
- Positive Result: Indicates the presence of DMD gene mutations consistent with Duchenne or Becker muscular dystrophy
- Negative Result: Suggests no detectable mutations in the analyzed regions of the DMD gene
- Carrier Status: Identifies individuals who carry the mutation but may not show symptoms
- Variant of Uncertain Significance: Rare genetic changes requiring further clinical correlation
All results include detailed explanations and recommendations for follow-up care with your physician, pediatrician, or neurologist.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $350 |
| Regular Price | $450 |
Test Specifications
- Turnaround Time: 3 weeks
- Sample Type: Blood
- Testing Method: MLPA (Multiplex Ligation-dependent Probe Amplification)
- Specialties: Physician, Pediatrician, Neurologist
- Department: Molecular Diagnostics
- Disease Type: Genetic Disorders
Pre-Test Requirements
Before scheduling your test, please ensure you have completed the Genomics Clinical Information Requisition Form (Form 20). This comprehensive form collects essential clinical information that helps our specialists provide the most accurate interpretation of your genetic results.
Nationwide Testing Availability
We proudly serve patients across the United States with testing facilities in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more locations. Our network of certified collection centers ensures convenient access to quality genetic testing services.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and treatment planning. Our genetic counselors and medical professionals are ready to assist you through every step of the testing process. For immediate scheduling or to speak with a genetic specialist, call or WhatsApp us at +1(267) 388-9828.
Book your Duchenne Becker Muscular Dystrophy DMD BMD Gene Mutation Test today and take the first step toward comprehensive genetic understanding and improved healthcare management.
