MTAP Gene Myopathy Limb Girdle with Bone Fragility NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The MTAP Gene Myopathy Limb Girdle with Bone Fragility NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neuromuscular conditions. This advanced test specifically targets mutations in the MTAP (Methylthioadenosine Phosphorylase) gene, which plays a crucial role in cellular metabolism and has been linked to a distinctive form of limb-girdle muscular dystrophy characterized by both muscle weakness and bone fragility.
What Does This Test Measure?
This comprehensive genetic test utilizes next-generation sequencing (NGS) technology to analyze the entire coding region of the MTAP gene, detecting:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Splice site mutations affecting gene function
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Progressive muscle weakness in the hips and shoulders (limb-girdle distribution)
- Difficulty climbing stairs, rising from chairs, or lifting objects
- Unexplained bone fractures with minimal trauma
- Family history of similar muscular and skeletal symptoms
- Delayed motor milestones in childhood
- Elevated creatine kinase levels without clear explanation
Clinical Benefits of Genetic Testing
Undergoing the MTAP Gene Myopathy test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out MTAP-related myopathy with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Proactive Management: Allows for early intervention and monitoring of potential complications
- Clinical Trial Eligibility: May qualify patients for specialized treatment studies
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates the presence of MTAP gene mutations associated with the condition
- Negative Result: Suggests MTAP-related myopathy is unlikely, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires further clinical correlation and family studies
- Carrier Status: Important information for family members and future generations
Test Details and Pricing
| Test Feature | Details |
|---|---|
| Test Name | MTAP Gene Myopathy Limb Girdle with Bone Fragility NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and the Midwest region
- Houston and Texas metropolitan areas
- Phoenix and Arizona communities
- All other major US cities and regions
Take Control of Your Health Today
Don’t let uncertainty about your symptoms delay proper diagnosis and treatment. Our MTAP Gene Myopathy test provides the clarity needed to move forward with confidence. Our experienced genetic counselors and neurologists are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your genetic health.
Early diagnosis through genetic testing can significantly impact treatment outcomes and quality of life. Contact us now to book your MTAP Gene Myopathy Limb Girdle with Bone Fragility NGS Genetic DNA Test and receive comprehensive genetic insights for just $500 USD.
