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TGFBR1 Gene Aortic aneurysm, familial thoracic type 5 NGS Genetic Test

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TGFBR1 Gene Aortic aneurysm, familial thoracic type 5 NGS Genetic Test

Short Name: TGFBR1 Gene Test

Also known as: FTAA Type 5 Genetic Test, TGFBR1 Mutation Analysis, Aortic Aneurysm Genetic Test

TGFBR1 Gene Aortic aneurysm, familial thoracic type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the TGFBR1 gene that cause familial thoracic aortic aneurysm type 5, aiding in diagnosis, risk assessment, and management.

Test Code
2547
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Inform the healthcare provider about any medications or medical conditions.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm or a finger prick for FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the implications of the test.
2
During the Test:The test involves sequencing the TGFBR1 gene using NGS technology.
3
After the Test:Results will be available in 3-4 weeks. Follow up with your healthcare provider for interpretation.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the TGFBR1 gene that cause familial thoracic aortic aneurysm type 5, aiding in diagnosis, risk assessment, and management.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment
  • Label the sample correctly
  • Transport at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for TGFBR1 mutations can significantly improve outcomes by enabling proactive management of familial thoracic aortic aneurysms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml for blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Genetic test results for TGFBR1 mutations should be interpreted by a qualified geneticist or healthcare provider in the context of family history and clinical presentation.
📊

Positive

Indicates a pathogenic mutation, increasing risk for familial thoracic aortic aneurysm

📊

Negative

No pathogenic mutations detected, but does not rule out other genetic causes

📊

Variant of Uncertain Significance (VUS)

Further testing or family studies may be needed

⚠️ When to Consult a Doctor:

If you have a family history of aortic aneurysm, experience symptoms, or receive a positive or VUS result, consult a geneticist or cardiologist for further evaluation.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal physical risks from blood draw
  • ●Psychological impact of results
  • ●Potential for uncertain results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during sample handling
  • ●Incomplete clinical information

Compare With Similar Tests

TestTGFBR1 Gene Aortic aneurysm, familial thoracic type 5 NGS Genetic TestTGFBR2 Gene TestSMAD3 Gene TestComprehensive Cardiovascular Genetic Panel
ComparisonTGFBR1 Gene Aortic aneurysm, familial thoracic type 5 NGS Genetic Test

Frequently Asked Questions

What is the TGFBR1 gene?
The TGFBR1 gene provides instructions for making a protein involved in cell growth and division. Mutations in this gene can lead to familial thoracic aortic aneurysm type 5.
What is familial thoracic aortic aneurysm type 5?
It is a genetic condition characterized by weakening and ballooning of the thoracic aorta, caused by mutations in the TGFBR1 gene, and runs in families.
How is the NGS genetic test performed?
The test uses Next-Generation Sequencing (NGS) technology to analyze the TGFBR1 gene from a blood or DNA sample, identifying mutations associated with aortic aneurysm.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the TGFBR1 gene, increasing the risk for familial thoracic aortic aneurysm, and requires further medical evaluation.
What are the symptoms of familial thoracic aortic aneurysm?
Symptoms may include chest pain, back pain, shortness of breath, hoarseness, or coughing up blood, but often no symptoms until the aneurysm is large.
Who should consider this test?
Individuals with a family history of aortic aneurysm, suggestive symptoms, or those seeking genetic counseling for at-risk family members.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test painful?
The test involves a standard blood draw or finger prick, which may cause minor discomfort but is generally not painful.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What is the cost of the test?
The test costs INR 20000, which includes sample collection, genetic analysis, and report generation.
Is genetic counseling included?
Genetic counseling is recommended and may be included as part of the service; consult with DNA Labs India for details.
What should I do if I have a family history of aortic aneurysm?
Consult a healthcare provider or geneticist to discuss the need for genetic testing and appropriate monitoring or preventive measures.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference 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.

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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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