DMD Gene Muscular Dystrophy Duchenne Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Duchenne Muscular Dystrophy
The DMD Gene Muscular Dystrophy Duchenne Type NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering unparalleled accuracy in detecting mutations associated with Duchenne muscular dystrophy (DMD). This progressive neuromuscular disorder primarily affects males and leads to severe muscle degeneration, making early detection crucial for effective management and treatment planning.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test meticulously analyzes the entire dystrophin gene (DMD), which spans over 2.4 million base pairs and contains 79 exons. The test identifies:
- Large-scale deletions affecting multiple exons
- Gene duplications that disrupt normal protein function
- Point mutations and small insertions/deletions
- Frameshift mutations leading to premature stop codons
- Splice site variants affecting mRNA processing
Who Should Consider This Genetic Screening
This test is particularly recommended for individuals presenting with:
- Progressive muscle weakness beginning in early childhood
- Delayed motor milestones (walking, running, climbing)
- Gower’s sign – using hands to push up from sitting position
- Pseudohypertrophy of calf muscles
- Elevated serum creatine kinase (CK) levels
- Family history of muscular dystrophy or unexplained muscle disorders
- Cardiomyopathy or respiratory complications in childhood
Significant Benefits of Early Detection
Undergoing DMD genetic testing provides numerous advantages:
- Early Intervention: Enables proactive management strategies before significant muscle deterioration occurs
- Accurate Diagnosis: Provides definitive confirmation of Duchenne muscular dystrophy, eliminating diagnostic uncertainty
- Family Planning: Offers crucial information for genetic counseling and reproductive decision-making
- Treatment Guidance: Informs appropriate therapeutic approaches, including corticosteroid therapy and physical rehabilitation
- Clinical Trial Eligibility: Opens opportunities for participation in emerging gene therapy and exon-skipping trials
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies a pathogenic mutation in the DMD gene, confirming Duchenne muscular dystrophy diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: For female relatives, determines risk of passing the condition to offspring
All results include detailed interpretation by board-certified genetic specialists and recommendations for next steps in management and family testing.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | DMD Gene Muscular Dystrophy Duchenne Type NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of detailed family pedigree chart
- Review of previous diagnostic testing and muscle biopsy results if available
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing regardless of your location.
Take Control of Your Neurological Health
Don’t let uncertainty about muscular dystrophy risk affect your family’s future. Our advanced DMD genetic testing provides the clarity needed for informed healthcare decisions and proactive management strategies. With our discounted pricing of only $500 and comprehensive genetic counseling support, you can access world-class neurological genetic testing without financial burden.
Ready to schedule your DMD genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward definitive diagnosis and personalized care management.
