TTN Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2J NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The TTN Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2J NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying specific genetic mutations associated with this rare form of muscular dystrophy. This advanced genetic screening utilizes next-generation sequencing technology to provide comprehensive analysis of the TTN gene, which encodes the massive protein titin—a crucial component of muscle structure and function.
What This Test Measures and Detects
This specialized genetic test specifically targets mutations in the TTN gene that cause limb-girdle muscular dystrophy type 2J, an autosomal recessive condition. The test examines:
- Complete sequencing of the TTN gene using NGS technology
- Detection of pathogenic variants and mutations
- Identification of autosomal recessive inheritance patterns
- Analysis of genetic markers associated with progressive muscle degeneration
- Assessment of mutation impact on titin protein function
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Progressive muscle weakness in hips, shoulders, and pelvic regions
- Difficulty rising from chairs or climbing stairs
- Family history of muscular dystrophy or unexplained muscle weakness
- Abnormal gait or walking difficulties developing in childhood or early adulthood
- Elevated creatine kinase levels without clear explanation
- Muscle biopsy findings suggestive of muscular dystrophy
- Planning for family with known risk of inherited muscle disorders
Clinical Benefits and Importance
Early and accurate diagnosis through this test provides numerous benefits:
- Precise Diagnosis: Confirms or rules out TTN-related muscular dystrophy
- Treatment Planning: Enables targeted management strategies
- Genetic Counseling: Supports informed family planning decisions
- Prognostic Information: Helps predict disease progression and outcomes
- Clinical Trial Eligibility: Opens access to specialized treatments and research
- Family Screening: Identifies at-risk relatives for early intervention
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and neurologists:
- Positive Result: Indicates presence of pathogenic TTN mutations confirming diagnosis
- Negative Result: Suggests absence of tested mutations but doesn’t rule out other causes
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Identifies individuals with one copy of mutation who may pass it to offspring
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | TTN Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2J 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 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 results and their impact
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 genetic testing facilities ensures consistent, high-quality service nationwide.
Take the Next Step Toward Clarity
Don’t let uncertainty about muscle weakness or family history of muscular dystrophy delay your path to answers. Our specialized genetic testing provides the clarity needed for informed healthcare decisions and proper disease management.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your TTN Gene Limb-Girdle Muscular Dystrophy Type 2J NGS Genetic DNA Test and take control of your neurological health.
Our team of genetic specialists and neurologists is ready to guide you through the testing process, provide comprehensive result interpretation, and connect you with appropriate resources for ongoing care and management.
