ENG Gene Telangiectasia, hereditary hemorrhagic, of Rendu, Osler and Weber type 1 NGS Genetic Test
Short Name: ENG Gene HHT1 NGS Test
Also known as: Hereditary Hemorrhagic Telangiectasia Type 1, HHT1, Rendu-Osler-Weber Syndrome Type 1
ENG Gene Telangiectasia, hereditary hemorrhagic, of Rendu, Osler and Weber type 1 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 ENG Gene Telangiectasia NGS Genetic Test is to confirm a diagnosis of Hereditary Hemorrhagic Telangiectasia Type 1 by identifying pathogenic mutations in the ENG gene. This helps in early detection, risk assessment for family members, and guiding personalized treatment plans to manage symptoms and prevent complications.
- Test Code
- 5146
- 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
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are recommended before testing.
Method: Venipuncture
Laboratory Analysis
A blood sample is collected via venipuncture or a drop of blood on an FTA card. The procedure is minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store the sample as instructed and transport to the lab promptly.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ENG Gene Telangiectasia NGS Genetic Test is to confirm a diagnosis of Hereditary Hemorrhagic Telangiectasia Type 1 by identifying pathogenic mutations in the ENG gene. This helps in early detection, risk assessment for family members, and guiding personalized treatment plans to manage symptoms and prevent complications.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label the sample correctly with patient details
- Follow standard phlebotomy procedures
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for HHT1 is crucial for early diagnosis and management, especially in families with a history of recurrent nosebleeds or vascular abnormalities. It helps in guiding personalized care and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Positive
Pathogenic mutation detected in ENG gene, confirming HHT1. Genetic counseling and clinical management are recommended.
Negative
No pathogenic variants detected. Consider other genetic causes or clinical evaluation if symptoms are present.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its clinical significance is unknown. Further testing and family studies may be needed.
Consult a doctor if you experience recurrent nosebleeds, unexplained bleeding, red spots on skin, or have a family history of HHT. Seek immediate medical attention for symptoms like severe bleeding, shortness of breath, or neurological issues.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or intronic variants
- ⚠Results require clinical correlation and genetic counseling
- ⚠Does not predict disease severity or progression
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
- ●Contaminated or degraded DNA samples
- ●Recent blood transfusions
- ●Improper sample storage
Frequently Asked Questions
What is the ENG Gene Telangiectasia NGS Genetic Test?
How much does the test cost?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get the results?
What are the symptoms of ENG Gene Telangiectasia?
How is the test performed?
Is home sample collection available?
What is the accuracy of the NGS Genetic Test?
Can the test detect all mutations in the ENG gene?
What should I do if the test is positive?
Is genetic counseling recommended before and after 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.
Your Data Privacy
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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