TGFBR1 Gene Marfan Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Connective Tissue Disorders
The TGFBR1 Gene Marfan Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for connective tissue disorders. This advanced Next-Generation Sequencing (NGS) test specifically targets the TGFBR1 gene, which plays a crucial role in transforming growth factor-beta signaling pathways essential for proper connective tissue development and maintenance.
What This Test Measures and Detects
Our comprehensive genetic analysis focuses on identifying mutations and variations in the TGFBR1 gene that are directly associated with:
- Marfan syndrome and related connective tissue disorders
- Loeys-Dietz syndrome type 1
- Familial thoracic aortic aneurysm and dissection
- Various TGFBR1-related connective tissue abnormalities
The test utilizes state-of-the-art NGS technology to sequence the entire TGFBR1 gene, detecting single nucleotide variants, insertions, deletions, and copy number variations with exceptional accuracy and sensitivity.
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with the following symptoms or clinical features:
- Tall stature with disproportionately long limbs
- Arachnodactyly (long, slender fingers)
- Joint hypermobility and flexibility
- Cardiovascular abnormalities including aortic root dilation
- Ocular complications such as lens dislocation
- Family history of connective tissue disorders
- Skeletal abnormalities including pectus excavatum or carinatum
- Skin manifestations including striae and easy bruising
Key Benefits of TGFBR1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out TGFBR1-related disorders with precision
- Early Intervention: Enables proactive management of potential complications
- Personalized Treatment: Guides tailored medical management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Risk Assessment: Identifies at-risk family members for preventive screening
- Comprehensive Care: Facilitates multidisciplinary approach involving cardiologists, ophthalmologists, and orthopedic specialists
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your test results:
- Positive Result: Indicates the presence of a pathogenic TGFBR1 mutation, confirming diagnosis and guiding specific management protocols
- Negative Result: Suggests absence of detectable TGFBR1 mutations, though clinical evaluation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation and family studies
- Carrier Status: Determines inheritance patterns and family risk assessment
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | TGFBR1 Gene Marfan Syndrome 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 |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of potential implications and limitations of testing
- Informed consent process
Nationwide Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about connective tissue disorders affect your health and quality of life. Our TGFBR1 Gene Marfan Syndrome NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions and comprehensive care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling specialists.
Our dedicated team is ready to guide you through the testing process, answer your questions, and provide the support you need throughout your genetic testing journey. Book your test now and take control of your genetic health with confidence and clarity.
