TGFBR1 Gene Aortic Aneurysm Familial Thoracic Type 5 NGS Genetic DNA Test
Comprehensive Genetic Testing for Aortic Aneurysm Risk
The TGFBR1 Gene Aortic Aneurysm Familial Thoracic Type 5 NGS Genetic DNA Test represents a significant advancement in cardiovascular genetic medicine. This specialized diagnostic examination utilizes next-generation sequencing technology to identify mutations in the TGFBR1 (Transforming Growth Factor Beta Receptor 1) gene, which plays a critical role in maintaining the structural integrity of the aortic wall. Familial thoracic aortic aneurysms represent a serious hereditary condition that can lead to life-threatening complications if left undetected.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets:
- Comprehensive sequencing of the TGFBR1 gene to identify pathogenic variants
- Detection of mutations associated with familial thoracic aortic aneurysm type 5
- Identification of genetic markers for Loeys-Dietz syndrome type 1
- Assessment of connective tissue disorder predisposition
- Evaluation of aortic dissection and rupture risk factors
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Family history of thoracic aortic aneurysms or dissections
- Unexplained sudden cardiac death in family members
- Features of connective tissue disorders including hypermobile joints
- Abnormalities in aortic root dimensions detected during imaging
- Multiple family members with cardiovascular conditions
- Personal history of aortic dilation or related vascular issues
Key Benefits of TGFBR1 Genetic Testing
Undergoing this comprehensive genetic assessment provides numerous advantages:
- Early Risk Identification: Detect genetic predisposition before symptoms develop
- Personalized Monitoring: Establish appropriate surveillance intervals based on genetic risk
- Family Screening: Enable targeted testing for at-risk relatives
- Preventive Interventions: Implement lifestyle modifications and medical management
- Surgical Planning: Guide timing of preventive aortic surgery when indicated
- Reproductive Counseling: Provide information for family planning decisions
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and cardiovascular specialists:
- Positive Result: Indicates a pathogenic mutation in the TGFBR1 gene, confirming increased risk for familial thoracic aortic aneurysm type 5
- Negative Result: No mutation detected, though family history and clinical findings remain important for comprehensive risk assessment
- Variant of Uncertain Significance: Identifies a genetic change with unclear clinical implications requiring ongoing monitoring
- Professional Interpretation: All results include detailed explanation and personalized recommendations from our genetic counseling team
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Genetics and Vascular Medicine
- Department: Clinical Genetics
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential results and their significance
Nationwide Testing Availability
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 cities. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Action for Your Cardiovascular Health
Don’t wait to understand your genetic risk for thoracic aortic aneurysms. Early detection through TGFBR1 genetic testing can be life-saving. Our team of genetic specialists is ready to guide you through the testing process and provide comprehensive result interpretation.
Book your TGFBR1 Gene Aortic Aneurysm Test today by calling +1(267) 388-9828 or schedule your appointment online. Take the first step toward proactive cardiovascular health management and family risk assessment.
