TGFBR2 Gene Aortic aneurysm, familial thoracic type 3 NGS Genetic Test
Short Name: TGFBR2 FTAA Test
Also known as: TGFBR2 Gene Test for Aortic Aneurysm, Familial Thoracic Aortic Aneurysm Genetic Test, TGFBR2 NGS Test
TGFBR2 Gene Aortic aneurysm, familial thoracic type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the TGFBR2 Gene Aortic Aneurysm NGS Genetic Test is to identify mutations in the TGFBR2 gene that are associated with Familial Thoracic Aortic Aneurysm (FTAA). This test aids in early diagnosis, risk assessment, and management of FTAA, enabling healthcare providers to implement timely interventions such as surveillance imaging, medications, or surgical options. It also facilitates genetic counseling for affected individuals and their families to understand inheritance patterns and recurrence risks.
- Test Code
- 2557
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
No specific preparation required. Ensure genetic counseling is completed and clinical history is provided.
Method: Venipuncture or FTA Card
Laboratory Analysis
Blood sample will be collected via venipuncture or using an FTA card. Minimal discomfort expected.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the TGFBR2 Gene Aortic Aneurysm NGS Genetic Test is to identify mutations in the TGFBR2 gene that are associated with Familial Thoracic Aortic Aneurysm (FTAA). This test aids in early diagnosis, risk assessment, and management of FTAA, enabling healthcare providers to implement timely interventions such as surveillance imaging, medications, or surgical options. It also facilitates genetic counseling for affected individuals and their families to understand inheritance patterns and recurrence risks.
How to Prepare
- Fast for 4-6 hours if specified, though not typically required
- Bring identification and doctor's prescription
- Inform the phlebotomist of any bleeding disorders or medications
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early detection through genetic testing can help in managing familial thoracic aortic aneurysm effectively, allowing for timely interventions and family screening."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Incorrectly labeled samples
- Insufficient sample volume
Understanding Your Results
Pathogenic variant detected
High risk for FTAA; recommend clinical monitoring, imaging, and genetic counseling.
Action: Consult a cardiologist or genetic specialist for management plan.
Variant of uncertain significance (VUS)
Clinical significance unclear; further testing and family studies may be needed.
Action: Follow up with genetic counselor for updated information.
No pathogenic variant detected
Reduced risk based on TGFBR2 gene, but other causes may exist.
Action: Continue routine monitoring if symptomatic or high-risk based on family history.
Consult a doctor if you experience symptoms like chest or back pain, shortness of breath, or fainting, or if you have a family history of aortic aneurysm. Genetic counseling is recommended before and after testing.
Limitations
- ⚠May not detect all genetic variants or mutations in non-coding regions
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not replace clinical evaluation and imaging studies
- ⚠False negatives possible due to technical limitations
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site
Interfering Factors
- ●Poor sample quality (e.g., hemolyzed blood)
- ●Insufficient DNA quantity
- ●Contamination during sample collection or processing
Frequently Asked Questions
What is the TGFBR2 Gene Aortic Aneurysm NGS Genetic Test?
Who should consider this genetic test?
How is the test performed?
What is the cost of the test?
Is fasting required before the test?
How long does it take to get results?
What do the results mean?
Is genetic counseling recommended?
Can this test be done at home?
What are the risks of the test?
How accurate is the NGS genetic test?
What should I do if I test positive?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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