ENG Gene Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) Genetic Test in UAE

Executive Summary & Core Metrics

Summary: DNA Labs UAE offers a comprehensive next-generation sequencing (NGS) analysis of the ENG gene for definitive diagnosis of Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1), also known as Osler-Weber-Rendu syndrome. This test delivers 99.9% diagnostic sensitivity for pathogenic variants underlying abnormal vascular formation.

● Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 certified NGS processing.
● Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM–11 PM).
● Clinical Guidance: Complimentary telephonic post-test interpretation by a DHA-licensed Consultant Medical Genetics specialist.
● Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.

Test Overview & Methodology

This advanced genetic test analyzes the entire ENG gene to identify pathogenic variants causing HHT1, a disorder characterized by telangiectasias and multi-organ arteriovenous malformations. Early molecular confirmation enables proactive clinical surveillance and informed family planning.

Feature	Our ENG NGS Test	Closest Alternative (Sanger Sequencing)
Method	Targeted NGS (full gene, all exons & splice sites)	Single-variant or limited exon analysis
Variant Detection	SNVs, indels, and copy number variants (CNV) with 99.9% sensitivity	Only known hotspots; misses novel/rare variants
Turnaround Time	3–4 weeks	3–4 weeks
Clinical Utility	Comprehensive diagnosis, family cascade screening	Confirmatory only for known familial mutation

Physician Insight & Safety Protocols

“As a Consultant Medical Genetics specialist, I routinely counsel families affected by hereditary vascular disorders. This ENG gene sequencing provides definitive molecular confirmation of HHT1, yet a negative result does not fully exclude the diagnosis if Curacao clinical criteria are met. Integration with imaging surveillance and family pedigree analysis remains essential for comprehensive care.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory Notice: Medication Continuity

⚠️ Do not discontinue any prescribed medication without consulting your treating physician. This genetic test is a diagnostic adjunct and does not replace ongoing clinical surveillance or emergency management.

Safety Exclusion Criteria & Emergency Red Flags

Exclusion: Acute febrile illness, active systemic infection, or recent blood transfusion (within 2 weeks) may compromise sample adequacy.
Exclusion: Sample volume less than 1 mL whole blood or insufficient DNA yield on FTA card.
Emergency Red Flag: Sudden severe nosebleed refractory to pressure, acute chest pain or dyspnea (possible pulmonary AVM rupture), or sudden severe headache with neurological deficit (cerebral AVM bleed)—seek emergency care immediately. This test is not intended for acute crisis management.

Patient FAQ & Clinical Guidance

1. What is the ENG gene test used for in diagnosing HHT1?

A: This test detects pathogenic DNA variants in the ENG gene responsible for Hereditary Hemorrhagic Telangiectasia Type 1. It screens for single-nucleotide changes, small insertions/deletions, and copy number alterations, enabling early identification of vascular malformation risk and informed family cascade testing.

2. How is the genetic specimen collected for ENG sequencing?

A: A standard peripheral whole blood draw (or FTA card spot) is performed by a certified phlebotomist. Our VIP mobile phlebotomy service provides temperature-controlled cold-chain transport from your home to the laboratory. No fasting or special preparation is required.

3. What does a positive ENG gene result mean for clinical management?

A: A positive result confirms a genetic diagnosis of HHT1, prompting systematic surveillance for arteriovenous malformations and referral to a vascular specialist. Family members can pursue targeted cascade testing. Imaging studies (MRI, CT) may be indicated even before symptoms manifest.

UAE Regulatory & Data Privacy Adherence

This test is performed under DHA Facility License No. 1143 (Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE). All genetic data processing complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). Testing of minors requires guardian consent in accordance with applicable UAE regulations.

Clinical & Logistical Metadata

Test Name	ENG Gene Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) Genetic Test
Price (AED)	2,800 AED
Turnaround Time	3–4 Weeks
Sample Type / Matrix	Peripheral Whole Blood or FTA Card Spot
Methodology Used	Targeted Next-Generation Sequencing (NGS) – Full Gene, All Exons & Splice Sites
ICD-10-CM Code	I78.0
LOINC Code	93935-1
DHA Facility License & Laboratory Address	DHA License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE \| DNA Labs UAE