TIMP1 Gene Bicuspid aortic valve NGS Genetic Test
Short Name: TIMP1 BAV NGS Test
Also known as: BAV Genetic Test, TIMP1 Mutation Test, Bicuspid Aortic Valve NGS Test
TIMP1 Gene Bicuspid aortic valve 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the TIMP1 Gene Bicuspid Aortic Valve NGS Genetic Test is to identify mutations in the TIMP1 gene that are associated with an increased risk of developing Bicuspid Aortic Valve and its related complications. This test aids in early diagnosis, genetic counseling, and personalized medical management for individuals with a family history or symptoms of BAV.
- Test Code
- 5192
- 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)
Sample Collection
Patient should provide detailed clinical and family history. A genetic counseling session is recommended to understand test implications and draw a pedigree chart.
Method: Venipuncture or FTA card spotting
Laboratory Analysis
Blood sample is collected via venipuncture or one drop on FTA card by a trained phlebotomist, ensuring minimal discomfort.
Report Delivery
Sample is labeled, processed, and transported to the laboratory under appropriate conditions for DNA extraction and NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the TIMP1 Gene Bicuspid Aortic Valve NGS Genetic Test is to identify mutations in the TIMP1 gene that are associated with an increased risk of developing Bicuspid Aortic Valve and its related complications. This test aids in early diagnosis, genetic counseling, and personalized medical management for individuals with a family history or symptoms of BAV.
How to Prepare
- No fasting required, but avoid heavy meals before blood draw
- Bring identification and prescription if available
- Inform about any medications, health conditions, or recent transfusions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for TIMP1 mutations is crucial for early detection of Bicuspid Aortic Valve, allowing timely intervention to prevent severe cardiovascular complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
No pathogenic variants detected
Low genetic risk for BAV due to TIMP1 mutations. Clinical correlation and regular monitoring advised.
Pathogenic variant detected
Increased risk for BAV and associated complications. Recommend cardiac monitoring, genetic counseling, and family screening.
Variant of uncertain significance
Further testing, family studies, or functional analysis may be required for clarification.
Consult a cardiologist or geneticist if you have symptoms of BAV, a family history of congenital heart defects, or if genetic testing reveals a pathogenic variant for personalized management.
Limitations
- ⚠Test only analyzes TIMP1 gene; other genes linked to BAV not covered
- ⚠Results may not predict disease severity or onset timing
- ⚠Genetic variants of uncertain significance may be identified, requiring further study
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising, soreness, or rare infection
- ●Psychological impact of genetic results, including anxiety or stress
- ●Potential for incidental findings unrelated to BAV, requiring further evaluation
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Incorrect sample storage or handling
Compare With Similar Tests
| Test | TIMP1 Gene Bicuspid aortic valve NGS Genetic Test | Echocardiography | Cardiac MRI | Other BAV Genetic Panels |
|---|---|---|---|---|
| Comparison | TIMP1 Gene Bicuspid aortic valve NGS Genetic Test |
Frequently Asked Questions
What is Bicuspid Aortic Valve (BAV)?
What is the TIMP1 gene and its role in BAV?
Who should consider the TIMP1 Gene BAV NGS Genetic Test?
How is the test performed?
What does the test cost?
Is home sample collection available?
How long does it take to get results?
What do the results mean?
Are there any risks associated with the test?
Can the test detect all genetic causes of BAV?
Is genetic counseling included?
How can I book the 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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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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