Test Price
2,800 AED✅ Home Collection Available
TGFBR1 Gene Sequencing for Marfan Syndrome – DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑accredited next‑generation sequencing (NGS) processing.
- Premium Logistics: VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary pre‑ and post‑test genetic counselling included with every test.
- Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731.
- Price: 2,800 AED – all‑inclusive (sample collection, sequencing, analysis, and counselling).
- Turnaround Time: 3–4 weeks from sample receipt to final report.
Test Overview & Methodology
This advanced NGS‑based genetic test sequences the entire TGFBR1 gene to confirm or rule out Marfan syndrome and related connective tissue disorders. It is essential for individuals with clinical features or a family history of aortic aneurysm, providing precise molecular diagnosis to guide cardiovascular, ophthalmologic, and orthopedic management. DNA Labs UAE employs a 30× minimum coverage depth and dual‑bioinformatic pipeline to ensure 99.9% analytical sensitivity for single‑nucleotide variants and small indels.
| Feature | Our Test (NGS Precision) | Closest Alternative (Standard Sanger) |
|---|---|---|
| Methodology | Next‑Generation Sequencing – full gene coverage (coding + flanking intronic regions) | Sanger sequencing – targeted hotspots only |
| Analytical Sensitivity | 99.9% for SNVs & small indels; detects deep intronic variants | ~95% – misses non‑coding and deep intronic variants |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Sample Requirement | Peripheral whole blood (2 mL EDTA) or buccal swab | Peripheral whole blood (3–5 mL EDTA) |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I understand the anxiety that genetic testing for Marfan syndrome can bring. This test provides definitive molecular clarity for treatment decisions, but results must always be interpreted alongside a thorough clinical evaluation and family history. A negative result does not exclude all genetic causes; ongoing specialist follow‑up remains vital for comprehensive care.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Notice
Do not discontinue any prescribed medication, including beta‑blockers or angiotensin receptor blockers, without consulting your managing physician. Genetic test results are intended to inform, not replace, your current treatment plan.
Exclusion Criteria & Safety Red Flags
- Active Systemic Infection: Acute febrile illness may compromise DNA quality; reschedule until afebrile.
- Recent Blood Transfusion: Wait at least 2 weeks post‑transfusion to avoid donor‑DNA interference.
- Minors (Under 18): Mandatory legal guardian consent required per UAE Federal Law.
- Emergency Warning Signs: Sudden severe chest pain, acute vision loss, or rapid heartbeat warrant immediate emergency department evaluation – do not delay care for genetic testing.
Patient FAQ & Clinical Guidance
1. What is the TGFBR1 gene and how does it relate to Marfan syndrome?
The TGFBR1 gene provides instructions for a receptor protein that regulates cell growth and tissue repair. Pathogenic variants in this gene disrupt the transforming growth factor‑beta (TGF‑β) signalling pathway, leading to weakened connective tissue characteristic of Marfan syndrome. This NGS‑based test reads the entire coding region of TGFBR1 to identify disease‑causing mutations, enabling a definitive molecular diagnosis that guides lifelong cardiovascular, ophthalmologic, and orthopedic surveillance.
2. Who should consider this genetic test for Marfan syndrome?
Individuals who meet any of the following criteria should pursue testing: a clinical diagnosis or suspicion of Marfan syndrome based on the revised Ghent criteria (including tall stature, arachnodactyly, lens dislocation, or aortic root dilation); a first‑degree relative with a known pathogenic TGFBR1 variant; or a family history of unexplained aortic aneurysm or dissection. Early molecular diagnosis in at‑risk relatives allows for proactive monitoring and preventive intervention to reduce the risk of life‑threatening aortic complications.
3. What does the testing process involve from sample collection to results?
A trained phlebotomist collects a peripheral whole blood sample (2 mL EDTA) or a buccal swab at your home via our VIP mobile phlebotomy service. The sample is transported under temperature‑controlled conditions to our ISO‑accredited laboratory. DNA extraction is followed by next‑generation sequencing with a minimum 30× coverage depth. Bioinformatic analysis identifies pathogenic variants, and dual‑certified molecular geneticists interpret the findings. A comprehensive report is delivered within 3–4 weeks, accompanied by a complimentary post‑test genetic counselling session to explain the results and their implications.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection
- Data Privacy: All genetic data is processed and stored in full compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring strict confidentiality and patient consent control.
- Health Information Security: Adherence to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields governs the secure handling of electronic medical records and genetic data.
- Clinical Safety & Consent: Patient consent and clinical safety protocols follow Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring all procedures meet the highest standard of care.
- Laboratory Accreditation: DNA Labs UAE operates under DHA Facility License No. 1143 and is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), guaranteeing rigorous quality management.
Clinical & Logistical Metadata
| Test Name | TGFBR1 Gene Sequencing for Marfan Syndrome |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (2 mL EDTA) or buccal swab – VIP mobile phlebotomy & temperature‑controlled cold‑chain home collection available daily 8 AM–11 PM |
| Methodology Used | Next‑Generation Sequencing (NGS) – full gene coverage, 30× minimum depth |
| ICD-10-CM Code | Q87.40, Z15.89, Z84.81 |
| LOINC Code | 81763-4 |
| 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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