Test Price
2,800 AED✅ Home Collection Available
TGFBR2 Gene Loeys-Dietz Syndrome Type 1B Genetic Test | 2,800 AED
Executive Summary & Core Metrics
Executive Summary
Our advanced next‑generation sequencing (NGS) test detects pathogenic variants in the TGFBR2 gene causing Loeys‑Dietz syndrome type 1B. The test is DHA‑licensed and offers 99.9% diagnostic sensitivity. We provide VIP mobile phlebotomy with temperature‑controlled cold‑chain home collection (daily 8 AM–11 PM), post‑test telephonic consultation with a DHA‑licensed genetic counselor, and direct WhatsApp‑based insurance verification at +971 54 548 8731.
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑accredited processing.
- Premium Logistics: VIP mobile phlebotomy & ISO‑certified cold‑chain home collection.
- Clinical Support: Telephonic consultation after results from DHA‑licensed specialists.
- Insurance Check: Verify coverage instantly via WhatsApp.
Test Overview & Methodology
The TGFBR2 gene sequencing test is essential for confirming clinically suspected Loeys‑Dietz syndrome type 1B, a disorder characterised by arterial tortuosity, aneurysms, hypertelorism, and bifid uvula. Mutations in TGFBR2 disrupt the TGF‑β signalling pathway and mandate lifelong cardiovascular surveillance. This test enables cascade family screening and guides prophylactic management.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity for single‑nucleotide variants and small indels across the entire coding region | Variable; lower resolution for mosaicism and intronic variants |
| Method | Next‑generation sequencing (NGS) with bioinformatic confirmation | Targeted Sanger sequencing of limited exons |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks |
Physician Insight & Safety Protocols
Advisory Protocol
Do not discontinue any prescribed medication – particularly antihypertensives or cardiac therapies – without consulting your supervising physician. Genetic test results complement, but do not replace, ongoing clinical care. If you experience sudden chest pain, severe headache, visual disturbances, or shortness of breath, proceed immediately to the nearest emergency department. These may indicate acute aortic syndrome or dissection, which require urgent medical intervention.
Patient Exclusion Criteria
This test is not appropriate for individuals unable to provide informed consent or for minors without a legal guardian’s authorisation, in compliance with Federal Decree‑Law No. 4 of 2016 on Medical Liability. Patients currently in a cardiovascular crisis should seek emergency care before scheduling genetic testing.
Patient FAQ & Clinical Guidance
1. What is the clinical accuracy of this TGFBR2 genetic test?
Direct Answer: The test achieves greater than 99.9% analytical sensitivity and specificity for pathogenic variants listed in ClinVar and HGMD, providing a definitive diagnosis when correlated with physical findings.
2. Can this test be performed on children or minors in the UAE?
Direct Answer: Yes, with written consent from a parent or legal guardian and a prior genetic counselling session to assess risks and benefits, in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
3. How long does it take to receive results, and who will explain them?
Direct Answer: Results are available in 3 to 4 weeks from sample reception. A DHA‑licensed genetic counsellor or the ordering physician will provide a detailed post‑test consultation, ensuring you understand the implications and any necessary follow‑up.
4. How is the sample collected at home? Is it painful?
Direct Answer: A licensed mobile nurse performs a simple venous blood draw or collects a few drops on an FTA card during a 10‑minute home visit. The procedure is generally painless for both adults and children.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License No. 1143 and strictly 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. All patient data is encrypted and processed in accordance with UAE healthcare data governance standards, ensuring confidentiality and security throughout the testing lifecycle.
Clinical & Logistical Metadata
| Test Name | TGFBR2 Gene Loeys‑Dietz Syndrome Type 1B Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (Venous or FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) |
| ICD‑10‑CM Code | Q87.89 |
| LOINC Code | 82771-1 |
| DHA Facility License & Address | License No: 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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