Test Price
2,800 AED✅ Home Collection Available
TGFBR1 Gene Aortic Aneurysm, Familial Thoracic Type 5 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) Accredited Processing.
- Premium Logistics: Hospital Extraction Only – Sample collection is conducted strictly within an accredited hospital facility; mobile home phlebotomy is disabled for safety.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This TGFBR1 gene test uses Next-Generation Sequencing to analyze all coding regions, providing a definitive diagnosis for familial thoracic aortic aneurysm type 5 and Loeys‑Dietz syndrome. The analysis is performed on an Illumina platform, ensuring high sensitivity for variant detection.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Full gene coverage, detection of all variant types, 99.9% accuracy | Limited to specific exons, may miss large deletions/insertions |
| Method | Next-Generation Sequencing (NGS) on Illumina platform | Capillary electrophoresis, single-fragment analysis |
| Speed | 3 – 4 Weeks | 6 – 8 Weeks (if sequential testing needed) |
Recommended by: Cardiologists (syndromic aortopathy diagnosis), General Physicians (familial risk assessment), Medical & PhD Researchers (genotype‑phenotype studies).
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403), explains: “A positive TGFBR1 mutation indicates a considerably elevated risk for aortic dissection, but the result must be correlated with echocardiographic imaging and complete family pedigree. A negative result does not exclude other genetic or acquired aortopathies, so lifelong cardiovascular surveillance remains essential.”
Medication Safety Advisory
⚠ Medication Warning:
Do not discontinue prescribed medication without consulting your doctor. Abrupt cessation of beta‑blockers or angiotensin receptor blockers can trigger dangerous aortic stress.
Exclusion Criteria & ER Red Flags
- Severe anemia or active bleeding disorder that prevents safe phlebotomy.
- Inability to provide informed consent; minors require guardian consent and genetic counselling per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flags: Sudden severe chest/back pain, syncope, signs of stroke – do not wait for genetic testing, seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What does the TGFBR1 gene test detect?
This advanced genetic test detects disease‑causing variants in the TGFBR1 gene, confirming familial thoracic aortic aneurysm and Loeys‑Dietz syndrome risk. The analysis covers all coding exons and splice‑site regions, identifying missense, nonsense, frameshift, and copy‑number changes. Early identification enables prophylactic management and family screening.
2. How is the test performed?
The test requires a blood sample collected at an accredited hospital facility. Hospital Extraction Only – Sample collection is conducted strictly within an accredited hospital setting; mobile home phlebotomy is disabled for safety. Our team coordinates with the hospital to schedule the collection between 8 AM and 11 PM.
3. What is the turnaround time?
Your comprehensive genetic results are provided within 3 to 4 weeks, alongside mandatory genetic counselling. The report includes a detailed interpretation by a molecular pathologist, classification of variants according to ACMG guidelines, and recommendations for clinical follow‑up. A telephonic counselling session is included to discuss findings and implications for family members.
4. Is the test suitable for family screening?
Yes, if a pathogenic variant is identified in the index patient, cascade screening of first-degree relatives is recommended. This proactive approach allows early detection and preventive management in at-risk individuals.
UAE Regulatory & Data Privacy Adherence
This service complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all genetic data privacy and security protocols. All health information is further protected under Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical procedures and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Sample handling and processing follow DHA/MOHAP standards.
Clinical & Logistical Metadata
| Test Name | TGFBR1 Gene Aortic Aneurysm, Familial Thoracic Type 5 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) – Hospital Extraction Only |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina Platform |
| ICD-10-CM Code | I71.2, I71.3 |
| LOINC Code | 88518-6 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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