Test Price
2,800 AED✅ Home Collection Available
TGFBR1 Gene Loeys-Dietz Syndrome Type 2A Genetic Test (NGS) in UAE
Executive Summary & Core Metrics
This next-generation sequencing (NGS) test examines the entire coding region of the TGFBR1 gene to identify pathogenic variants causing Loeys-Dietz syndrome type 2A, a multi-system connective tissue disorder that carries a high risk of early aortic aneurysm and dissection. The test achieves 99.9% diagnostic sensitivity via ISO accredited processing and includes telephonic post-test clinical guidance for result interpretation. Direct billing verification with major UAE insurers is available through WhatsApp at +971 54 548 8731.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This molecular diagnostic test employs next-generation sequencing (NGS) to analyze all coding exons and flanking intronic regions of the TGFBR1 gene. Pathogenic variants in TGFBR1 are causative for Loeys-Dietz syndrome type 2A, an autosomal dominant connective tissue disorder characterized by arterial tortuosity, aortic root aneurysms, hypertelorism, and bifid uvula. Early molecular confirmation enables proactive cardiovascular surveillance and prophylactic surgical intervention, significantly reducing mortality risk. The test is performed on peripheral whole blood collected via sterile venipuncture.
| Feature | Our Test (NGS, ISO-Certified) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Analytical Precision | Full gene sequencing with variant detection sensitivity >99% | Limited to known hotspot regions; may miss novel variants |
| Methodology | Next-Generation Sequencing (NGS) with CLIA/CAP equivalent | Sanger sequencing of selected exons |
| Turnaround Time | 3–4 weeks | 4–6 weeks (full gene can take longer) |
Physician Insight & Safety Protocols
"A positive TGFBR1 genetic result confirms the diagnosis of Loeys-Dietz syndrome type 2A and necessitates a life-saving surveillance program for aortic root dilation. However, a negative result does not exclude the condition if clinical suspicion remains high; further genetic consultation and segregation analysis are advised. Always correlate molecular findings with the complete clinical phenotype and family history." — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue or alter any prescribed medication, including beta-blockers or angiotensin receptor blockers, without explicit instruction from your treating physician. Abrupt cessation of cardiovascular medications may increase the risk of aortic complications.
Exclusion Criteria & Emergency Red Flags
- Test requires prior genetic counselling and a detailed three-generation pedigree chart; it is not performed without written informed consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Minors require legal guardian consent; parental agreement must be documented prior to sample collection.
- Patients with acute severe chest or back pain, sudden breathlessness, or signs of aortic dissection must go to the emergency room immediately — do not wait for test results.
- If you experience fainting, rapid heartbeat, or new neurological deficits, proceed directly to the emergency room.
Patient FAQ & Clinical Guidance
1. What does this TGFBR1 genetic test detect and why is it important?
It identifies pathogenic mutations in the TGFBR1 gene that cause Loeys-Dietz syndrome type 2A, enabling early cardiovascular monitoring. This test is critical because LDS type 2A carries a high risk of aortic aneurysms and dissection at an early age. A positive result will prompt tailored imaging surveillance and prophylactic management, vastly improving outcomes.
2. How is the sample collected and is home service available?
A peripheral whole blood sample is collected by a certified phlebotomist at your home through our VIP Mobile Phlebotomy service. Our temperature-controlled cold-chain logistics operate daily from 8 AM to 11 PM across the UAE. Simply contact our WhatsApp line to schedule. The sample is transported in validated temperature-controlled kits to the laboratory for NGS analysis.
3. Will my insurance cover this genetic test and how do I verify?
Many UAE health insurance plans cover medically necessary genetic testing when pre-authorized; our team verifies benefits directly with your insurer. Send your insurance card via WhatsApp to +971 54 548 8731 before testing, and we will confirm coverage and any applicable co-payment or deductible. We also offer direct billing to major insurers across the Emirates.
4. What is the turnaround time for results and how will I receive them?
Results are available within 3 to 4 weeks from sample receipt at the laboratory. You will receive a comprehensive molecular report via secure email and the patient portal. A telephonic consultation with a genetic counsellor is scheduled to explain the findings and their clinical implications.
5. What are the limitations of this genetic test?
This test detects point mutations and small indels in the TGFBR1 coding region but does not assess large deletions, duplications, or deep intronic variants. A negative result does not rule out Loeys-Dietz syndrome if clinical suspicion is strong; additional testing methods such as MLPA or whole exome sequencing may be recommended by your geneticist.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and adheres to the highest standards of data protection and clinical governance. Patient genetic information is processed, stored, and transmitted 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 clinical testing safety and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Genetic data is encrypted, access-controlled, and never shared with third parties without explicit patient authorization.
Clinical & Logistical Metadata
| Test Name | TGFBR1 Gene Loeys-Dietz Syndrome Type 2A Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA tube) or FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene coding region analysis |
| ICD-10-CM Code | Q87.89, Q87.8 |
| LOINC Code | 82994-1 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians