Test Price
2,800 AEDโ Home Collection Available
GDF2 Gene Hereditary Hemorrhagic Telangiectasia Type 5 (HHT5) Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- โAccuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing (ISO 9001:2015 Cert: INT/EGQ/2509DA/3139).
- โPremium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM โ 11 PM), available daily across Dubai and the UAE.
- โClinical Guidance: Telephonic Post-Test Genetic Counseling by DHA-licensed experts for comprehensive result interpretation.
- โInsurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes the GDF2 gene for pathogenic variants causing Hereditary Hemorrhagic Telangiectasia Type 5 (HHT5), a rare vascular disorder that leads to arteriovenous malformations and telangiectasias. The assay provides definitive molecular diagnosis and enables risk stratification for affected families in the UAE. Whole gene coverage of coding regions and splice sites ensures >99% analytical sensitivity for detecting single-nucleotide variants, insertions, deletions, and copy-number alterations.
| Feature | Our Test (GDF2 NGS) | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Technology | Next-Generation Sequencing (NGS) | Sanger Sequencing |
| Variant Coverage | Whole gene (coding regions + splice sites) with >99% analytical sensitivity | Targeted exon analysis; may miss deep intronic or copy-number variants |
| Turnaround Time | 3 โ 4 Weeks | 4 โ 6 Weeks |
| Sample Options | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | Whole Blood or Extracted DNA |
Physician Insight & Safety Protocols
โGenetic testing for HHT5 is a powerful diagnostic tool that can clarify the cause of recurrent epistaxis, telangiectasias, or visceral vascular malformations. However, the result must be integrated with the full clinical picture and a detailed family pedigree. I always counsel patients that a positive finding enables focused surveillance and early intervention, while a negative result in a symptomatic individual may warrant broader gene panel testing. Shared decision-making with your healthcare provider remains essential.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Pre-Test Genetic Counseling Advisory
All patients must complete a pre-test genetic counseling session to review the scope, limitations, and potential implications of GDF2 gene analysis. A three-generation pedigree and detailed clinical history are required before sample collection. Patients on anticoagulant therapy should inform the phlebotomist; no other special preparation is needed. Genetic testing results do not replace ongoing clinical management โ always consult your physician before making any changes to your care plan.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: This test is not indicated for asymptomatic individuals without a family history of HHT or for recreational genetic exploration without proper counseling.
- Exclusion: Patients with active, uncontrolled epistaxis or gastrointestinal bleeding should be clinically stabilized before blood draw.
- Red Flag: Seek immediate emergency care if you experience sudden severe headache, acute chest pain, massive GI bleeding, or stroke-like symptoms.
Patient FAQ & Clinical Guidance
1. What is the GDF2 gene and its role in HHT5?
The GDF2 gene encodes bone morphogenetic protein 9 (BMP9), a critical growth factor for maintaining blood vessel integrity. Pathogenic variants in GDF2 disrupt BMP9 signaling, leading to type 5 hereditary hemorrhagic telangiectasia (HHT5), which presents with recurrent epistaxis, cutaneous telangiectasias, and arteriovenous malformations in the lungs, liver, or brain. Genetic confirmation enables targeted surveillance, family cascade screening, and personalized management planning.
2. Who should consider this genetic test?
Individuals with recurrent nosebleeds, multiple telangiectasias, or a known first-degree relative with a pathogenic GDF2 variant are strong candidates. Predictive testing for at-risk family members can clarify personal risk and guide early screening even before symptoms appear. Comprehensive pre-test genetic counseling is mandatory to ensure informed decision-making and to discuss the potential psychosocial and family implications of genetic testing.
3. How accurate is the NGS test for HHT5 and what do the results mean?
Next-generation sequencing achieves >99% analytical sensitivity for detecting disease-causing variants in the GDF2 gene. A positive result confirms the molecular diagnosis of HHT5 and allows targeted clinical surveillance. A negative result in a symptomatic individual does not fully exclude HHT, as other genes (ENG, ACVRL1, SMAD4) may be responsible; extended panel testing may be recommended. All results are interpreted by board-certified molecular geneticists following ACMG/AMP classification guidelines.
UAE Regulatory & Data Privacy Adherence
This service is provided 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 is encrypted, pseudonymized, and stored within UAE sovereign cloud infrastructure. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 certification (INT/EGQ/2509DA/3139). Clinical interpretations are reviewed by Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403).
For insurance direct billing verification, contact WhatsApp +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | GDF2 Gene Hereditary Hemorrhagic Telangiectasia Type 5 (HHT5) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 โ 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Whole Gene Coverage |
| ICD-10-CM Code | I78.0 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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