Test Price
2,800 AED✅ Home Collection Available
FBN1 Gene Sequencing for MASS Syndrome – Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Executive Summary
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing with full exon coverage.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test counselling by a consultant medical geneticist for comprehensive result interpretation.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Core Metrics: 2,800 AED | 3–4 weeks turnaround | Germline DNA analysis | Next-Generation Sequencing + Sanger confirmation
Test Overview & Methodology
This advanced genetic test analyses the entire FBN1 gene using Next‑Generation Sequencing (NGS) to detect pathogenic variants associated with MASS syndrome—a heritable connective tissue disorder characterised by mitral valve prolapse, aortic root enlargement, skin striae, and skeletal features. Full coverage of all 65 exons and splice junctions ensures >99.9% analytical sensitivity for single‑nucleotide variants and small indels. All pathogenic and likely pathogenic findings are confirmed via orthogonal Sanger sequencing.
| Feature | DNA Labs UAE – NGS FBN1 | Closest Alternative |
|---|---|---|
| Precision | 100% gene coverage (all 65 exons) with ≥30× read depth | Targeted Sanger sequencing of 2–3 hotspot exons only |
| Method & Confirmation | NGS + Sanger confirmation of all pathogenic/likely pathogenic variants | Sanger sequencing alone; no orthogonal validation |
| Turnaround Time | 3–4 weeks | 4–6 weeks (often with reflex to single-exon testing) |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I recognise that pursuing genetic testing for a suspected connective tissue disorder carries both clinical and emotional weight. A definitive molecular diagnosis through comprehensive FBN1 sequencing enables precise aortic surveillance intervals, informed family cascade screening, and timely cardioprotective interventions. Equally important, a negative result does not exclude all hereditary aortic syndromes; careful clinical re‑evaluation and possible multi‑gene panel testing remain essential.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory – Medication Continuity
⚠️ Do not discontinue any prescribed medication, including beta‑blockers or angiotensin receptor blockers, without consulting your treating physician. Genetic test results complement, but do not replace, ongoing clinical management.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Acute febrile illness (self‑limited) – defer collection until symptom resolution.
- Exclusion: Whole‑blood transfusion within the last 4 weeks may compromise germline DNA yield; schedule draw accordingly.
- ER Red Flag: Sudden chest pain, severe dyspnoea, or palpitations immediately after venipuncture warrant urgent medical assessment.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of the FBN1 gene test for MASS syndrome?
This test identifies pathogenic FBN1 variants with >99.9% analytical sensitivity to confirm or exclude MASS syndrome, differentiating it from Marfan syndrome and other heritable aortopathies. A positive result allows tailored cardiovascular surveillance intervals, prophylactic surgical planning, and cascade testing of at‑risk relatives. A negative result, in the context of strong clinical suspicion, may warrant broader multi‑gene panel analysis.
All variant classifications follow ACMG/AMP guidelines and are reviewed by a consultant medical geneticist before report release.
2. How is the sample collected and what are the requirements?
A single peripheral whole blood draw (2–4 mL EDTA tube) is sufficient. No fasting is required. For patients outside Dubai, an extracted DNA sample or dried FTA card spot may be accepted after prior coordination. Our VIP mobile phlebotomy team operates daily from 8 AM to 11 PM using ISO‑certified temperature‑controlled cold‑chain transport to preserve nucleic acid integrity.
A pre‑test genetic counselling session (included in the fee) will document a three‑generation pedigree and obtain written informed consent aligned with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
3. What does the 2,800 AED cost include and how long do results take?
The 2,800 AED fee includes pre‑test genetic counselling, full NGS sequencing of the FBN1 gene with Sanger confirmation of all clinically significant variants, and a comprehensive clinical report delivered within 3 to 4 weeks. The report details variant classification, clinical correlations, and personalised recommendations for aortic and cardiac surveillance. No hidden charges apply; direct billing with major insurers can be verified via WhatsApp.
4. Who should consider this genetic test?
This test is indicated for individuals with clinical features suggestive of MASS syndrome, including mitral valve prolapse, borderline or mild aortic root dilatation, skin striae, and skeletal findings such as pectus deformity or scoliosis. It is also appropriate for first‑degree relatives of a proband with a confirmed pathogenic FBN1 variant. A referral from a cardiologist, rheumatologist, or clinical geneticist is recommended.
UAE Regulatory & Data Privacy Adherence
Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic sequence data, clinical reports, and personal identifiers are encrypted at rest and in transit. Access is restricted to authorised clinical personnel only, and data is never shared with third parties without explicit patient consent.
Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Our laboratory information system complies with UAE health data governance standards, ensuring secure electronic health record exchange, audit logging, and breach notification protocols. DHA Facility License No. 1143 – DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | FBN1 Gene Sequencing for MASS Syndrome (Genetic Test) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA), extracted germline DNA, or dried FTA card spot |
| Methodology Used | Next‑Generation Sequencing (NGS) with Sanger confirmation of all pathogenic/likely pathogenic variants |
| ICD-10-CM Code | Q87.4 |
| LOINC Code | 21669-8 |
| 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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