ACTA2 Gene Aortic aneurysm, familial thoracic type 6 NGS Genetic Test
Short Name: ACTA2 Gene Aortic Aneurysm Test
Also known as: Familial thoracic aortic aneurysm type 6, FTAAD type 6, ACTA2-related aortic aneurysm
ACTA2 Gene Aortic aneurysm, familial thoracic type 6 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
To identify genetic mutations in the ACTA2 gene associated with familial thoracic aortic aneurysm and dissection for early diagnosis, risk assessment, and management.
- Test Code
- 2559
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide detailed clinical and family history. Undergo genetic counseling to understand the test implications and draw a pedigree chart.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn via venipuncture from a vein in the arm.
Report Delivery
Apply pressure to the puncture site with a cotton ball or bandage. Monitor for any signs of bleeding or bruising.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify genetic mutations in the ACTA2 gene associated with familial thoracic aortic aneurysm and dissection for early diagnosis, risk assessment, and management.
How to Prepare
- No fasting required
- Bring a valid ID and doctor's prescription if available
- Inform the phlebotomist about any medications or health conditions
- Wear loose clothing for easy access to the arm
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic diagnosis can help in monitoring and preventing life-threatening complications of aortic aneurysm."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrect sample container or labeling
Understanding Your Results
Positive for pathogenic variant
Increased risk for familial thoracic aortic aneurysm. Clinical correlation, regular monitoring, and genetic counseling are recommended.
Negative for pathogenic variants
No known disease-causing mutations detected in the ACTA2 gene. However, clinical symptoms should be evaluated further.
Variant of uncertain significance (VUS)
A genetic variant was found, but its clinical significance is unknown. Further testing, family studies, and consultation with a geneticist are advised.
If you have a family history of aortic aneurysm, experience symptoms such as chest pain, back pain, or shortness of breath, or receive a positive genetic test result.
Limitations
- ⚠May not detect all genetic variants or mutations
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Not a standalone diagnostic tool; clinical correlation is necessary
- ⚠Variant of uncertain significance may require further testing
Risks & Considerations
- ●Minimal risk from blood draw, such as pain, bruising, or infection
- ●Psychological impact of genetic results, including anxiety or stress
- ●Potential for incidental findings unrelated to the test indication
Interfering Factors
- ●Sample degradation or contamination
- ●Technical errors during sequencing
- ●Insufficient DNA quality or quantity
Compare With Similar Tests
| Test | ACTA2 Gene Aortic aneurysm, familial thoracic type 6 NGS Genetic Test | FBN1 Gene NGS Test | TGFBR1/2 Gene NGS Test | SMAD3 Gene Test | Aortic Aneurysm Panel NGS Test |
|---|---|---|---|---|---|
| Comparison | ACTA2 Gene Aortic aneurysm, familial thoracic type 6 NGS Genetic Test | Tests for mutations in the FBN1 gene associated with Marfan syndrome, which can also cause aortic aneurysm. | Tests for mutations in TGFBR1 or TGFBR2 genes linked to Loeys-Dietz syndrome, another genetic cause of aortic aneurysm. | Tests for mutations in the SMAD3 gene associated with arterial aneurysms and dissections. | A comprehensive panel testing multiple genes related to aortic aneurysm, including ACTA2, FBN1, and others. |
Frequently Asked Questions
What is the ACTA2 gene?
What is familial thoracic aortic aneurysm type 6?
What are the symptoms of ACTA2 gene aortic aneurysm?
How is ACTA2 gene aortic aneurysm diagnosed?
What is NGS genetic testing?
What is the cost of the ACTA2 gene NGS test in India?
Is home sample collection available for this test?
How long does it take to get the test results?
What should I do if I have a family history of aortic aneurysm?
Can this test be used for prenatal diagnosis?
What are the risks of genetic testing?
How can I book the ACTA2 gene NGS test?
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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.
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