ACVRL1 Gene Telangiectasia, hereditary hemorrhagic, type 2 NGS Genetic Test
Short Name: ACVRL1 HHT Type 2 NGS Test
Also known as: Osler-Weber-Rendu syndrome, HHT Type 2
ACVRL1 Gene Telangiectasia, hereditary hemorrhagic, type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood 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 this test is to detect mutations in the ACVRL1 gene to confirm a diagnosis of Hereditary Hemorrhagic Telangiectasia Type 2, assess genetic risk, inform treatment decisions, and facilitate genetic counseling for affected individuals and their families.
- Test Code
- 5148
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Ensure genetic counseling session is scheduled to discuss family history and test implications.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture by a trained phlebotomist. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately. Sample will be processed for DNA extraction and NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the ACVRL1 gene to confirm a diagnosis of Hereditary Hemorrhagic Telangiectasia Type 2, assess genetic risk, inform treatment decisions, and facilitate genetic counseling for affected individuals and their families.
How to Prepare
- Fast for not required unless specified by physician
- Bring identification and doctor's prescription
- Inform about any medications or recent transfusions
- Ensure sample is labeled correctly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for ACVRL1 mutations is essential for confirming HHT Type 2 diagnosis, enabling early intervention and family screening to manage vascular complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrect sample type or container
- Missing patient information
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of HHT Type 2. Recommend clinical management and family screening.
Negative for pathogenic variant
No mutations detected in ACVRL1 gene. Consider other HHT genes or clinical assessment.
Variant of uncertain significance (VUS)
Genetic variant identified but clinical significance unknown. Requires follow-up and genetic counseling.
Consult a healthcare provider if you experience symptoms like recurrent nosebleeds, bleeding from GI tract, or skin spots, especially with a family history of HHT. After receiving test results, seek genetic counseling for interpretation and management.
Limitations
- ⚠May not detect all genetic variants, including deep intronic mutations
- ⚠Variants of uncertain significance (VUS) may be identified
- ⚠Does not rule out other forms of HHT or related disorders
- ⚠Results require clinical correlation and genetic counseling
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Hemolyzed blood sample
- ●Recent blood transfusion
Compare With Similar Tests
| Test | ACVRL1 Gene Telangiectasia, hereditary hemorrhagic, type 2 NGS Genetic Test | ENG Gene Test for HHT Type 1 | Clinical Evaluation and Imaging | HHT Gene Panel Test | Sanger Sequencing |
|---|---|---|---|---|---|
| Comparison | ACVRL1 Gene Telangiectasia, hereditary hemorrhagic, type 2 NGS Genetic Test |
Frequently Asked Questions
What is the ACVRL1 Gene HHT Type 2 NGS Genetic Test?
Why is this test recommended?
What are the symptoms of HHT Type 2?
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 does a positive result mean?
What if the result is negative?
Can this test be done at home?
Is genetic counseling provided?
Are there any risks associated with the test?
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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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