GDF2 Gene Telangiectasia hereditary hemorrhagic type 5 NGS Genetic Test
Short Name: GDF2 HHT Type 5 NGS Test
Also known as: Osler-Weber-Rendu disease, HHT Type 5
GDF2 Gene Telangiectasia hereditary hemorrhagic 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 from sample receipt. 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
To diagnose Hereditary Hemorrhagic Telangiectasia Type 5 by detecting mutations in the GDF2 gene using next-generation sequencing, aiding in clinical management and genetic counseling.
- Test Code
- 5145
- ICD Code
- I78.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counseling recommended to discuss implications and family history. No fasting required.
Method: Venipuncture or finger prick
Laboratory Analysis
Standard blood draw via venipuncture or finger prick for FTA card. Ensure proper labeling and aseptic technique.
Report Delivery
Sample is transported to the lab under controlled conditions for DNA extraction and NGS analysis.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Hereditary Hemorrhagic Telangiectasia Type 5 by detecting mutations in the GDF2 gene using next-generation sequencing, aiding in clinical management and genetic counseling.
How to Prepare
- Ensure patient identification and sample labeling
- Use sterile collection equipment
- For FTA card, apply one drop of blood and air-dry
- Store blood sample at 2-8°C if not processed immediately
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of HHT Type 5 allows for proactive management of vascular complications and family screening."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improperly labeled or contaminated sample
- Sample older than stability period
Understanding Your Results
Positive
Pathogenic variant detected in GDF2 gene, consistent with HHT Type 5. Clinical management and family screening recommended.
Negative
No pathogenic variants detected. Does not rule out HHT if clinical suspicion remains; consider testing for other HHT genes.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing and family studies may be needed.
If symptoms of HHT (e.g., recurrent nosebleeds, telangiectases) are present, or if there is a family history of HHT. Consult a geneticist or hematologist for evaluation and management.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions)
- ⚠Variants of uncertain significance may be identified
- ⚠Does not rule out other forms of HHT or genetic disorders
Risks & Considerations
- ●Minimal risk from blood draw (e.g., bruising, infection)
- ●Psychological impact of genetic results
- ●Potential for variants of uncertain significance causing anxiety
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood sample
- ●Recent blood transfusion
Compare With Similar Tests
| Test | GDF2 Gene Telangiectasia hereditary hemorrhagic type 5 NGS Genetic Test | ENG Gene HHT Type 1 NGS Test | ACVRL1 Gene HHT Type 2 NGS Test | SMAD4 Gene HHT Type 4 NGS Test | Comprehensive HHT Gene Panel |
|---|---|---|---|---|---|
| Comparison | GDF2 Gene Telangiectasia hereditary hemorrhagic type 5 NGS Genetic Test |
Frequently Asked Questions
What is Hereditary Hemorrhagic Telangiectasia (HHT) Type 5?
What causes HHT Type 5?
What are the common symptoms of HHT Type 5?
How is HHT Type 5 diagnosed?
What does the GDF2 Gene NGS Genetic Test involve?
How much does the GDF2 Gene HHT Type 5 NGS Test cost?
Is home sample collection available for this test?
How long does it take to get the test results?
What do the test results mean?
Is genetic counseling included with the test?
Can this test be used for family screening?
What should I do before getting tested?
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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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