Test Price
2,800 AED✅ Home Collection Available
TGFBR2 Gene Genetic Test (Loeys-Dietz Syndrome Type 2 & Marfanoid Syndromes) in UAE
Executive Summary & Core Metrics
🔬 Clinical Sensitivity: 99.9% diagnostic accuracy for pathogenic TGFBR2 variants via ISO 9001:2015 accredited next-generation sequencing (NGS), covering all coding exons, splice sites, and regulatory regions.
🏠 Sample Collection: VIP mobile phlebotomy with temperature-controlled cold-chain home collection, available daily from 8 AM to 11 PM by a DHA-licensed phlebotomist.
📋 Post-Test Counselling: Telephonic session with a consultant medical geneticist to interpret results, assess familial risk, and plan personalized cardiovascular surveillance.
💳 Insurance Verification: Direct billing eligibility check via WhatsApp at +971 54 548 8731. We handle pre-approvals with all UAE network insurers.
Test Overview & Methodology
The TGFBR2 gene test utilises next-generation sequencing to analyse the complete coding region and adjacent intronic boundaries for mutations causing Loeys-Dietz syndrome type 2 and related Marfanoid disorders. This high-resolution assay detects single nucleotide variants, small insertions and deletions, and copy number alterations that predispose to thoracic aortic aneurysms, arterial tortuosity, and characteristic craniofacial and skeletal features. In the UAE, this test serves as the definitive molecular diagnostic tool for families with hereditary connective tissue disease and unexplained aortic pathology.
| Feature | Our Test (NGS – UAE Premium) | Closest Alternative (Limited Sanger/Single-Site) |
|---|---|---|
| Analytical Method | Next-Generation Sequencing (NGS) with copy number analysis | Sanger sequencing or targeted mutation panel |
| Gene Coverage | Full gene: all exons, splice sites, and regulatory regions | Selected exons or known family mutation only |
| Turnaround Time | 3 to 4 weeks | 6 to 8 weeks (multi-step process) |
| Diagnostic Sensitivity | 99.9% for pathogenic variants (ISO validated) | ~85% depending on region selected |
| UAE Regulatory Compliance | DHA licensed (Facility #1143), compliant with Federal Law No. 2 of 2019 | Variable; often unlicensed local referral labs |
| Sample Type | Whole blood, extracted DNA, or FTA card (single drop) | Typically blood only |
Physician Insight & Safety Protocols
“In my clinical practice managing families with thoracic aortic disease, the TGFBR2 genetic test provides essential information for risk stratification. A pathogenic variant demands structured echocardiographic surveillance and timely prophylactic surgical consultation, while a negative result does not exclude other heritable aortopathies that require ongoing clinical monitoring. The result must always be correlated with the full pedigree and aortic imaging data.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Critical Medication Advisory
Patients undergoing genetic evaluation for TGFBR2-related disease should not discontinue any prescribed beta-blockers, angiotensin receptor blockers, or other cardiovascular medications without direct consultation with their treating cardiologist. This genetic test augments clinical decision-making and does not replace existing therapeutic regimens.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Individuals unable to provide informed consent; minors require guardian consent per UAE Federal Law No. 2 of 2019 and the Wadeema Child Rights Law.
- Exclusion: Active severe infection or acute cardiovascular event; testing should be deferred until clinical stability is achieved.
- ER Red Flag: Sudden severe chest or back pain suggestive of aortic dissection – proceed immediately to the nearest emergency department; do not wait for genetic test results.
- ER Red Flag: Sudden loss of vision, stroke-like symptoms, or unexplained syncope in known TGFBR2 carriers warrants urgent emergency evaluation.
Patient FAQ & Clinical Guidance
1. What does the TGFBR2 gene test detect and why is it relevant for UAE families?
This NGS assay identifies harmful mutations in the TGFBR2 gene that cause Loeys-Dietz syndrome type 2, an autosomal dominant connective tissue disorder characterised by aortic root aneurysms, arterial tortuosity, wide-set eyes, bifid uvula, and skeletal abnormalities. Given the prevalence of consanguinity in the UAE, this test is critical for early detection in at-risk family members and for guiding prophylactic aortic surgery timing.
2. How is the sample collected and what preparation is needed?
A DHA-licensed phlebotomist collects a peripheral blood sample (3-5 mL) or a dried blood spot on an FTA card during a scheduled home visit. No fasting, medication changes, or special preparation is required. The sample is transported via temperature-controlled cold chain to our ISO-accredited laboratory.
3. When will I receive results and how are they explained?
Results are delivered within 3 to 4 weeks from sample receipt. You will receive a detailed written report followed by a telephonic genetic counselling session with a consultant medical geneticist who will interpret the findings, discuss inheritance patterns, coordinate family cascade testing, and recommend a personalised aortic surveillance plan.
UAE Regulatory & Data Privacy Adherence
Data Protection & Confidentiality: All genetic data is processed and stored 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. Genetic information is treated as highly sensitive personal data and is never shared with third parties without explicit patient consent.
Clinical Safety & Consent: Patient safety and informed consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring that every individual receives comprehensive pre-test counselling and provides written informed consent prior to genetic analysis.
Regulatory Oversight: DNA Labs UAE operates under DHA Facility License Number 1143 and is subject to regular audit and quality assurance by the Dubai Health Authority and the UAE Ministry of Health and Prevention.
Clinical & Logistical Metadata
| Test Name | TGFBR2 Gene Sequencing (Loeys-Dietz Syndrome Type 2 / Marfanoid Syndromes) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole blood (3-5 mL), extracted DNA (2 µg), or FTA card; VIP mobile phlebotomy & temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) with copy number variant analysis; full coding region, splice sites, and regulatory regions |
| ICD-10-CM Code | Q87.4 (Marfan syndrome and related connective tissue disorders) |
| LOINC Code | 76023-6 (TGFBR2 gene mutation analysis) |
| DHA Facility License & Laboratory Address | Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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