ACVRL1 Gene (Hereditary Hemorrhagic Telangiectasia Type 2) Genetic Test in UAE | 2800 AED | Accredited by DHA

Executive Summary & Core Metrics

The ACVRL1 Gene NGS Test delivers definitive molecular diagnosis of Hereditary Hemorrhagic Telangiectasia Type 2 (HHT2) with a validated diagnostic sensitivity exceeding 99.9% for single nucleotide variants and small insertions or deletions. This ISO 9001:2015 certified assay (Cert: INT/EGQ/2509DA/3139) utilises massively parallel sequencing to interrogate the full ACVRL1 coding region, splice sites, and flanking intronic segments, enabling concurrent copy number variant detection. Results are reported within 3 to 4 weeks of sample receipt, supported by pre-test genetic counselling and post-test physician consultation. The service is compliant 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.

Diagnostic Sensitivity: >99.9% for SNVs and indels
Turnaround Time: 3 – 4 weeks
Sample Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM daily)
Regulatory Oversight: DHA Facility License 1143 | Federal PDPL & ICT Health Law compliant

Test Overview & Methodology

The ACVRL1 gene encodes activin A receptor type II-like 1, a transmembrane kinase essential for endothelial cell signalling via the TGF-β/BMP pathway. Pathogenic variants in ACVRL1 disrupt angiogenesis and cause Hereditary Hemorrhagic Telangiectasia Type 2, an autosomal dominant disorder characterised by recurrent epistaxis, mucocutaneous telangiectasias, and visceral arteriovenous malformations. This next-generation sequencing assay targets all coding exons, conserved splice junctions, and 50 bp flanking intronic regions of ACVRL1 (NM_000020.3). Bioinformatics analysis employs validated pipelines for single nucleotide variant, small indel, and CNV calling, with orthogonal confirmation by Sanger sequencing for all clinically actionable variants. The test is performed at DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, under DHA Facility License 1143.

Feature	Our ACVRL1 NGS Test	Conventional Sanger Sequencing
Genetic Coverage	Full gene + flanking regions, CNV detection	Targeted exons only, limited CNV analysis
Technology	Massively Parallel Sequencing (NGS)	Sanger Capillary Electrophoresis
Turnaround Time	3 – 4 Weeks	6 – 8 Weeks
Sensitivity	>99.9% for single nucleotide variants and indels	~98% for targeted regions

Physician Insight & Safety Protocols

“As a Consultant Medical Genetics specialist, I emphasise that ACVRL1 variant interpretation must be integrated with clinical phenotype — including epistaxis severity, mucocutaneous telangiectasia distribution, and documented family history. A confirmed pathogenic variant establishes the diagnosis of HHT2 and should prompt screening for pulmonary, hepatic, and cerebral arteriovenous malformations. Patients must not discontinue prescribed iron supplementation or anti‑fibrinolytic agents without prior discussion with their treating physician, as abrupt cessation may exacerbate bleeding tendencies in vulnerable individuals.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory Precautions & Medication Safety

Individuals on chronic anticoagulant or antiplatelet therapy must inform the phlebotomist prior to sample collection to coordinate appropriate haemostasis monitoring. Pre-test genetic counselling is mandatory to obtain a three-generation pedigree and document informed consent under Federal Decree-Law No. 4 of 2016 on Medical Liability. Post-test results are delivered during a dedicated tele-consultation with the referring clinician or our genetics team to ensure accurate interpretation and cascade screening planning.

Exclusion Criteria & Emergency Red Flags

Exclusion Criteria: No absolute contraindications to venipuncture; however, patients with known bleeding diathesis or severe anaemia (Hb < 7 g/dL) must be assessed by a physician prior to blood draw.
ER Red Flags After Testing: Sudden onset severe headache, seizure, focal neurological deficit, haemoptysis, or haematemesis warrant immediate emergency evaluation. Uncontrollable epistaxis lasting longer than 20 minutes despite direct pressure also requires urgent medical attention.
Medication Warning: Do not alter or discontinue prescribed anticoagulants, antiplatelets, or hormone therapy without consulting your treating physician.

Patient FAQ & Clinical Guidance

1. What is the purpose of the ACVRL1 genetic test?

The ACVRL1 test identifies disease-causing variants in the ACVRL1 gene to confirm Hereditary Hemorrhagic Telangiectasia Type 2 and to assess risk in asymptomatic family members. Establishing a molecular diagnosis enables targeted surveillance for visceral arteriovenous malformations, guides reproductive decision-making, and informs clinical management of epistaxis and anaemia. Genetic counselling is strongly recommended before and after testing.

2. How is the sample collected and what is the turnaround time?

A standard peripheral whole blood sample (8–10 mL in EDTA) is collected via our VIP Mobile Phlebotomy service, operating daily from 8 AM to 11 PM under strict temperature-controlled cold-chain conditions. Alternatively, patients may visit the DNA Labs UAE collection centre at Dubai Healthcare City. Results are issued within 3 to 4 weeks of laboratory accessioning.

3. Is this test covered by UAE health insurance plans?

Many UAE health insurers cover molecular genetic testing when deemed medically necessary by a licensed specialist. Our billing team can verify your coverage and obtain pre-authorisation prior to the blood draw. Direct billing verification is available via WhatsApp at +971 54 548 8731. Self-pay price is 2,800 AED.

UAE Regulatory & Data Privacy Adherence

This genetic testing service operates in full compliance 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. All genetic data are encrypted at rest and in transit, accessed only by authorised clinical personnel under strict role-based controls. Patient consent is obtained using DHA-approved forms, and results are disclosed exclusively to the ordering physician and the tested individual. The laboratory holds ISO 9001:2015 certification (INT/EGQ/2509DA/3139) and is subject to annual audits by the Dubai Healthcare City Authority of Quality.

DHA Facility License Number: 1143 | Corporate Lab Branding: DNA Labs UAE | Physical Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

Clinical & Logistical Metadata

Test Name	ACVRL1 Gene (Hereditary Hemorrhagic Telangiectasia Type 2) Genetic Test
Price (AED)	2,800 AED
Turnaround Time	3 – 4 Weeks
Sample Type / Matrix	Peripheral Whole Blood (EDTA)
Methodology Used	Next-Generation Sequencing (NGS) – Massively Parallel Sequencing
ICD-10-CM Code	I78.0
LOINC Code	82588-6
DHA Facility License & Address	License 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE