TCAP Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2G NGS Genetic DNA Test
Understanding TCAP Gene Limb-Girdle Muscular Dystrophy Type 2G
Limb-girdle muscular dystrophy type 2G (LGMD2G) is a rare autosomal recessive genetic disorder caused by mutations in the TCAP gene, which encodes the telethonin protein. This protein plays a crucial role in maintaining the structural integrity of muscle fibers and is essential for proper muscle function. When mutations occur in the TCAP gene, it disrupts the normal assembly of muscle proteins, leading to progressive muscle weakness and degeneration.
What Does This Test Detect?
Our advanced NGS Genetic DNA Test specifically analyzes the TCAP gene to identify pathogenic variants responsible for LGMD2G. The test examines:
- Point mutations and small insertions/deletions in the TCAP gene
- Copy number variations affecting gene function
- Pathogenic variants that disrupt telethonin protein production
- Autosomal recessive inheritance patterns
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Progressive muscle weakness in shoulders, hips, and thighs
- Difficulty climbing stairs or rising from seated positions
- Family history of muscular dystrophy or unexplained muscle weakness
- Elevated creatine kinase levels without clear explanation
- Muscle biopsy findings suggestive of muscular dystrophy
- Children or adults with delayed motor milestones
Clinical Symptoms Indicating Testing
Patients with LGMD2G typically present with:
- Proximal muscle weakness affecting shoulder and pelvic girdles
- Waddling gait and difficulty running
- Muscle wasting in affected areas
- Contractures and joint stiffness
- Cardiac involvement in some cases
- Progressive disability over time
Benefits of TCAP Gene Testing
Undergoing genetic testing for LGMD2G provides numerous advantages:
- Accurate Diagnosis: Confirm or rule out TCAP-related muscular dystrophy
- Family Planning: Understand inheritance risks for future generations
- Treatment Guidance: Inform management strategies and therapeutic approaches
- Prognostic Information: Understand disease progression and expected outcomes
- Genetic Counseling: Receive professional guidance on results interpretation
- Clinical Trial Eligibility: Qualify for targeted therapies and research studies
Understanding Your Test Results
Our comprehensive genetic counseling helps you interpret your results:
Positive Result
A positive result indicates the presence of pathogenic mutations in both copies of the TCAP gene, confirming the diagnosis of LGMD2G. This information enables:
- Development of personalized management plans
- Implementation of appropriate physical therapy
- Cardiac monitoring if indicated
- Family member testing recommendations
Negative Result
A negative result suggests that TCAP gene mutations were not detected, but does not completely rule out other forms of muscular dystrophy. Further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance
Some genetic changes may have unknown clinical significance. Our genetic counselors provide ongoing support as new research emerges about these variants.
Test Pricing and Information
| Test Component | Details |
|---|---|
| Test Name | TCAP Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2G 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
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process
Nationwide Testing Availability
We have testing facilities across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and neurologists ensures you receive comprehensive care regardless of your location.
Take Control of Your Health Today
Don’t let uncertainty about muscle weakness control your life. Our TCAP Gene Limb-Girdle Muscular Dystrophy Type 2G NGS Genetic DNA Test provides the clarity you need to make informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can take the first step toward understanding your condition and planning for the future.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our team is ready to answer your questions and guide you through the testing process.
