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Test Price

2,800 AED

✅ Home Collection Available

FBN1 Gene MASS Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed Lab

Executive Summary & Core Metrics

Executive Summary

  • Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified next-generation sequencing (NGS) for the full FBN1 coding region.
  • Premium Logistics: VIP mobile phlebotomy with temperature-controlled cold-chain transport available daily 8 AM – 11 PM; home collection included.
  • Clinical Guidance: Post-test telephonic consultation with a DHA-licensed consultant medical geneticist for result interpretation and familial risk assessment.
  • Insurance: Direct billing verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

This advanced molecular test analyzes the entire coding region of the FBN1 gene using next-generation sequencing (NGS) to detect pathogenic variants associated with MASS syndrome—a connective tissue disorder characterized by mitral valve prolapse, aortic root dilation, skin striae, and skeletal involvement. The test provides a definitive molecular diagnosis, enabling personalized cardiology surveillance and reproductive counseling. Results are typically available within 3–4 weeks.

Parameter Our Test (NGS Whole Gene) Alternative (Targeted Mutation Analysis)
Method Next-Generation Sequencing (NGS) – Full gene coverage Sanger sequencing – limited to known mutations
Turnaround Time 3–4 Weeks 2–4 Weeks
Sensitivity >99.9% for all variants in FBN1 ~90% for pre‑specified mutations
Clinical Actionability Identifies novel mutations, supports full diagnostic criteria Only confirms known familial variants
UAE DHA Compliance Fully licensed (Facility: 1143) Varies

Physician Insight & Safety Protocols

“Genetic testing for FBN1 mutations is pivotal in confirming MASS syndrome and differentiating it from other heritable aortic disorders. A positive result, however, must be integrated with clinical findings—echocardiography, family history, and systemic features. Pre-test genetic counseling ensures patients understand the implications for themselves and at-risk relatives. Always correlate genotype with phenotype.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License No. 9294403

Advisory: Pre-Test Genetic Counseling

Important Counseling Requirement

All patients must undergo pre-test genetic counseling by a qualified genetics professional prior to sample collection. This session covers the nature of the test, possible outcomes, implications for family members, and reproductive options. Counseling is mandatory for informed consent under Federal Decree-Law No. 4 of 2016 on Medical Liability.

Exclusion Criteria & Emergency Red Flags

Patient Safety Exclusion & Emergency Red Flags

  • Exclusion Criteria: Patients unwilling or unable to undergo pre-test genetic counseling; acute cardiovascular instability (e.g., suspected aortic dissection, acute coronary syndrome); known diagnosis of MASS or Marfan syndrome already confirmed by established clinical criteria without need for genetic confirmation.
  • ER Red Flags: Sudden severe chest or back pain, tearing sensation in the chest, acute vision loss, or syncope—seek immediate emergency medical attention.

Patient FAQ & Clinical Guidance

1. What is the purpose of the FBN1 gene MASS syndrome test?

The FBN1 NGS test identifies pathogenic variants causing MASS syndrome, a connective tissue disorder that can lead to mitral valve prolapse and aortic root dilation. Results guide cardiac surveillance frequency, medication decisions (e.g., beta-blockers), and screening of at-risk family members. It is indicated for individuals with suggestive clinical features or a family history of the condition.

2. How is the sample collected and does it require fasting?

A standard blood sample is collected via venipuncture by our VIP mobile phlebotomy team. No fasting is required. The sample is transported under temperature-controlled cold-chain conditions to our accredited laboratory. Results are available within 3–4 weeks, followed by a telephonic consultation with a genetic specialist.

3. What do my test results mean for my family members?

A positive result indicates an autosomal dominant inheritance pattern, meaning each child has a 50% chance of inheriting the mutation. Genetic counseling is essential to discuss cascade screening for first-degree relatives. A negative result in an affected individual may warrant testing for other genes in the Marfan spectrum. Our post-test guidance includes constructing a pedigree and coordinating family screening.

4. Is this test covered by insurance?

We offer direct billing verification for most UAE insurance plans. Please contact our billing team via WhatsApp at +971 54 548 8731 to check your coverage. Self-pay is also available at 2800 AED.

UAE Regulatory & Data Privacy Adherence

Regulatory Compliance: This testing service operates under DHA Facility License No. 1143 and strictly adheres to 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 data is processed and stored within the UAE to ensure full patient confidentiality and data security. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.

Clinical & Logistical Metadata

Test Name FBN1 Gene MASS Syndrome Genetic Test (NGS Whole Gene)
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Peripheral whole blood (3–5 mL EDTA tube); VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM
Methodology Used Next-Generation Sequencing (NGS) – full coding region of FBN1
ICD-10-CM Code Q87.4 (Marfan syndrome; MASS syndrome variant)
LOINC Code 82179-1 (FBN1 gene full sequencing)
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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