Test Price
2,800 AED✅ Home Collection Available
TGFBR2 Gene Sequencing for Loeys-Dietz Syndrome Type 2B Diagnostic Confirmation in UAE
Executive Summary & Core Metrics
Comprehensive TGFBR2 gene sequencing utilizing Next Generation Technology (NGS) to detect pathogenic variants causative of Loeys-Dietz syndrome type 2B (LDST2B). This analysis provides definitive molecular diagnosis for patients presenting with aortic aneurysms, arterial tortuosity, and skeletal abnormalities, enabling proactive cardiovascular surgical planning and family cascade screening.
- Accuracy Guarantee: 99.9% diagnostic sensitivity for coding region variants via ISO 15189 accredited processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM daily).
- Clinical Guidance: Direct post-test telephonic consultation with Consultant Medical Genetics, Lina Osama Zaki Quteineh (DHA: 9294403).
- Turnaround Time: 3–4 weeks with expedited processing available on request via WhatsApp.
Test Overview & Methodology
The TGFBR2 gene encodes the Transforming Growth Factor Beta Receptor 2, a key regulator of cellular growth and extracellular matrix integrity. Pathogenic variants in TGFBR2 lead to dysregulated TGF-beta signaling, resulting in the pleiotropic manifestations of Loeys-Dietz syndrome type 2B. Our NGS based assay achieves a minimum depth of coverage of 100x across all coding exons and flanking intronic regions, with all clinically significant findings confirmed via orthogonal Sanger sequencing.
| Feature | Our NGS Test (DNA Labs UAE) | Closest Alternative (Sanger Single-Gene) |
|---|---|---|
| Precision | Full coding region + CNV detection, 100x depth | Targeted exons only, limited CNV sensitivity |
| Methodology | NGS (Illumina NovaSeq) + Sanger confirmation | Conventional Sanger sequencing |
| Turnaround Time | 3–4 weeks (expedited available) | 6–8 weeks |
| Sample Requirement | 3-5 mL whole blood or buccal swab | 5-10 mL whole blood |
Physician Insight & Safety Protocols
A molecular diagnosis of Loeys-Dietz syndrome profoundly alters clinical management. Identifying a pathogenic TGFBR2 variant confirms the need for aggressive aortic surveillance and prophylactic surgical intervention, often at a younger age than other connective tissue disorders. However, a negative result does not entirely exclude the clinical diagnosis, particularly if phenotypic features are strong. I recommend integrating all genetic results with cardiology, rheumatology, and genetics evaluations and guiding cascade testing under a certified genetic counsellor.
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403)
Pre-Test Clinical Advisory
Do not discontinue prescribed cardiovascular medications (including beta-blockers or angiotensin receptor blockers) without consulting your managing physician. Abrupt cessation may elevate the risk of acute aortic complications.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Inability to provide informed consent; active severe bleeding disorder (alternative buccal swab collection may be arranged per clinician order); patients under 18 years without guardian consent.
- Emergency Red Flags: Seek immediate emergency care for sudden onset chest or back pain, severe headache, vision disturbances, hemoptysis, or any signs suggestive of acute aortic syndrome or stroke.
- Genetic Counselling: Pre- and post-test counselling is mandatory and available in English and Arabic. Schedule via WhatsApp +971 54 548 8731.
Patient FAQ & Clinical Guidance
1. What is the TGFBR2 gene test for Loeys-Dietz syndrome type 2B?
This test analyzes the TGFBR2 gene using NGS technology to identify pathogenic variants causing Loeys-Dietz syndrome type 2B, a condition characterized by aortic root aneurysms, arterial tortuosity, hypertelorism, and bifid uvula. Confirming a genetic etiology allows for precise cardiovascular risk stratification and informs family screening protocols.
2. How is the sample collected for this genetic test in the UAE?
A certified phlebotomist will perform a standard blood draw (3-5 mL) or collect a buccal swab at your preferred location. The specimen is preserved in a temperature-controlled cold-chain kit and transported to the DHA-licensed DNA Labs UAE facility in Dubai Healthcare City. Our VIP mobile phlebotomy service operates daily from 8 AM to 11 PM.
3. What is the turnaround time and how do I receive my results?
The comprehensive genetic report is typically issued within 3 to 4 weeks. Results are delivered via an encrypted PDF and discussed during a post-test telephonic consultation with our genetic specialist. You can track your sample status 24/7 by contacting our care team on WhatsApp.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE strictly adheres to the 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, access-controlled, and processed solely for diagnostic purposes. Clinical safety and patient consent protocols are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Our DHA license (No. 1143) and ISO accreditation ensure continuous compliance with international clinical laboratory standards.
Clinical & Logistical Metadata
| Test Name | TGFBR2 Gene Sequencing (Loeys-Dietz Syndrome Type 2B) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (3-5 mL) or Buccal Swab |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | Q87.89 |
| LOINC Code | 81317-1 |
| DHA Facility License & Laboratory Address | License 1143 | Premises 105, Floor 1, Bldg 33, Dubai Healthcare City, Dubai, UAE |
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