TGFBR2 Gene Loeys-Dietz Syndrome Type 2B NGS Genetic DNA Test
Comprehensive Genetic Analysis for Connective Tissue Disorders
The TGFBR2 Gene Loeys-Dietz Syndrome Type 2B NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing complex connective tissue disorders. This advanced genetic screening utilizes state-of-the-art Next-Generation Sequencing technology to identify mutations in the transforming growth factor beta receptor 2 (TGFBR2) gene, which plays a crucial role in regulating cell growth, proliferation, and tissue development throughout the body.
What This Test Measures and Detects
Our comprehensive NGS-based analysis specifically targets the TGFBR2 gene to identify pathogenic variants responsible for Loeys-Dietz syndrome type 2B. The test examines:
- Point mutations and small insertions/deletions in the TGFBR2 gene
- Missense, nonsense, and frameshift mutations affecting protein function
- Genetic variations impacting TGF-β signaling pathway
- Hereditary patterns of connective tissue disorder inheritance
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms or risk factors including:
- Family history of Loeys-Dietz syndrome or related connective tissue disorders
- Characteristic facial features such as hypertelorism (widely spaced eyes)
- Cleft palate or bifid uvula
- Arterial tortuosity and aneurysms
- Joint hypermobility and skeletal abnormalities
- Skin manifestations including translucent skin and easy bruising
- Immunological abnormalities and recurrent infections
- Unexplained cardiovascular complications at young age
Clinical Benefits of Early Detection
Early diagnosis through TGFBR2 genetic testing provides numerous advantages:
- Enables proactive cardiovascular monitoring and intervention
- Facilitates personalized treatment strategies
- Provides accurate genetic counseling for family planning
- Helps prevent life-threatening complications like aortic dissection
- Guides appropriate surgical timing and techniques
- Supports comprehensive multidisciplinary care coordination
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates presence of pathogenic TGFBR2 mutation, confirming Loeys-Dietz syndrome type 2B diagnosis
- Negative Result: No disease-causing mutation detected in TGFBR2 gene
- Variant of Uncertain Significance: Genetic change identified with unknown clinical impact requiring further evaluation
- Carrier Status: Information about inheritance patterns and family risk assessment
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our state-of-the-art facilities ensure accurate sample collection and processing with results typically available within 3-4 weeks.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about your genetic health. Early detection of TGFBR2 mutations can significantly impact treatment outcomes and quality of life. Our experienced genetic counselors are available to discuss your results and provide comprehensive guidance.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your TGFBR2 Gene Loeys-Dietz Syndrome Type 2B NGS Genetic DNA Test and take the first step toward proactive health management.
