Test Price
2,800 AED✅ Home Collection Available
TGFBR1 Gene Loeys-Dietz Syndrome Type 1A Genetic Test in UAE | 2800 AED | DHA-Licensed Facility
Executive Summary & Core Metrics
ISO 9001:2015 DHA-Licensed Facility: 1143
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test consultation for result interpretation by DHA-certified genetics professionals.
- Insurance Support: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This TGFBR1 gene sequencing test detects pathogenic variants causing Loeys-Dietz syndrome type 1A, a hereditary connective tissue disorder characterized by aortic aneurysms, distinctive craniofacial features, and skeletal anomalies. Accurate molecular diagnosis enables targeted surveillance, timely surgical intervention, and informed genetic counseling for at-risk family members. The analysis employs next-generation sequencing (NGS) with full gene coverage and copy number variant detection, interpreted according to ACMG/AMP standards.
| Feature | Our Test (NGS Full Gene) | Closest Alternative (Sanger Panel) |
|---|---|---|
| Precision & Scope | Full TGFBR1 gene sequencing + CNV detection | Limited to known hot-spot exons |
| Methodology | NGS with AI-augmented variant interpretation (ClinVar, ACMG/AMP) | Sanger sequencing of selected regions |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Price (AED) | 2800 | Typically >3000 |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I emphasize that precise molecular characterization of TGFBR1 variants is essential for accurate risk stratification in Loeys-Dietz syndrome. This test provides comprehensive gene coverage, enabling definitive diagnosis and informed family counseling. A positive result must always be correlated with clinical phenotype and imaging findings; a negative result does not exclude other inherited aortopathies, and continued multidisciplinary follow-up is advised.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Critical Medication Advisory
Patients currently prescribed beta-blockers, angiotensin receptor blockers, or any antihypertensive therapy must continue their regimen without interruption. Abrupt cessation can elevate hemodynamic stress on the aortic wall, increasing the risk of dissection. Any dosage adjustments should only be made under direct physician supervision.
Exclusion Criteria & Emergency Red Flags
- Active febrile illness may compromise sample integrity; defer collection until symptoms have resolved.
- Acceptable specimens are EDTA whole blood, extracted DNA, or FTA card; hemolyzed or clotted samples will be rejected.
- Emergency: Sudden onset of severe chest, back, or abdominal pain, shortness of breath, or syncope requires immediate emergency services (dial 998) as these may indicate acute aortic syndrome.
Patient FAQ & Clinical Guidance
1. What does the TGFBR1 gene test for Loeys-Dietz syndrome reveal?
This test analyzes the entire TGFBR1 gene using next-generation sequencing to detect mutations causative of Loeys-Dietz syndrome type 1A, a connective tissue disorder associated with aortic aneurysm risk, distinctive facial features, and skeletal abnormalities. Early genetic diagnosis enables proactive cardiovascular surveillance, timely surgical planning, and cascade testing for family members.
2. How long will it take to receive my TGFBR1 test results?
Results are delivered within 3 to 4 weeks from sample receipt. This timeframe ensures comprehensive bioinformatic analysis, variant interpretation per ACMG/AMP guidelines, and dual review by clinical geneticists. You will receive a detailed report with variant classification and clinical recommendations.
3. Do I need genetic counseling before and after this test?
Yes, a mandatory pre-test genetic counseling session with our DHA-licensed geneticist is required. This session documents your family pedigree, explains autosomal dominant inheritance patterns, discusses implications for relatives, and reviews possible outcomes. Post-test counseling is also provided to interpret results and guide management decisions.
UAE Regulatory & Data Privacy Adherence
Your data is protected under UAE law. This test is performed 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 information is encrypted, access-restricted, and processed solely for diagnostic and clinical care purposes. Clinical safety and informed consent practices adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | TGFBR1 Gene Loeys-Dietz Syndrome Type 1A Genetic Test |
| Price (AED) | 2800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | NGS (Next Generation Sequencing) with Full Gene Coverage and CNV Detection |
| ICD-10-CM Code | Q87.89 |
| LOINC Code | 81307-4 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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