Test Price
2,800 AED✅ Home Collection Available
FBN1 Gene (Weill-Marchesani Syndrome, Dominant Type 2) Next-Generation Sequencing Genetic Test in UAE
Executive Summary & Core Metrics
Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Next-Generation Sequencing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Comprehensive post-test telephonic consultation for result interpretation provided by a Consultant Medical Geneticist.
- Insurance: Direct Billing Verification available via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The FBN1 Gene Next-Generation Sequencing (NGS) test provides a definitive molecular diagnosis for Weill-Marchesani syndrome type 2, an autosomal dominant disorder characterized by short stature, brachydactyly, and ectopia lentis. This comprehensive NGS analysis detects pathogenic variants across all exons, intron-exon boundaries, and copy number variations (CNVs), offering unparalleled clinical accuracy to guide ophthalmological and systemic management.
| Feature | Our Test (NGS) | Closest Alternative (Sanger) |
|---|---|---|
| Precision | 99.9% analytical sensitivity & specificity | ~99% sensitivity for targeted variant |
| Method | Next-Generation Sequencing (full gene coverage) | Sanger sequencing (single-exon or limited sites) |
| Turnaround Time | 10–14 business days | 4–6 weeks |
| Report Comprehensiveness | Covers all exons + splice sites, CNV detection | Limited to specified variants |
Physician Insight & Safety Protocols
"As a Consultant in Medical Genetics, I consider the FBN1 NGS test an essential tool for confirming Weill-Marchesani syndrome type 2. Identifying pathogenic variants allows for targeted ophthalmic and cardiac surveillance, which is crucial for preventing complications and guiding family counseling."
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Notice
This is a diagnostic genetic test intended for individuals with clinical suspicion of Weill-Marchesani syndrome. Results should be interpreted by a qualified medical geneticist in the context of full clinical findings. Do not discontinue prescribed therapies based solely on test results without consulting your physician.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inability to provide an adequate blood sample; lack of signed informed consent for genetic testing as per Federal Decree-Law No. 4 of 2016; unaccompanied minor without a legal guardian.
- Red Flags – Seek Immediate Medical Attention: Sudden vision loss or acute eye pain (risk of lens dislocation-induced glaucoma); severe joint stiffness or skeletal deformities causing functional disability; chest pain or palpitations (cardiac valve involvement).
Patient FAQ & Clinical Guidance
1. What is the clinical utility of the FBN1 gene NGS test for Weill-Marchesani syndrome?
Answer: This NGS test confirms the diagnosis of Weill-Marchesani syndrome type 2 by detecting pathogenic variants in the FBN1 gene, enabling targeted surveillance for ectopia lentis, glaucoma, and joint complications. The test's comprehensive analysis identifies novel mutations and guides family screening and reproductive planning.
2. How should I prepare for the FBN1 NGS test, and what sample is required?
Answer: A pre-test genetic counseling session is mandatory to draw a pedigree chart of affected family members. A blood draw (whole blood in EDTA, extracted DNA, or a buccal swab) is collected by a certified phlebotomist at your home. You do not need to fast, but please avoid heparin-based anticoagulants as they may interfere with DNA extraction.
3. Are my genetic data and results protected under UAE law?
Answer: Absolutely. Your genetic information is protected under 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 samples are anonymized and stored in ISO 27001-certified biorepositories, and no data is shared without explicit written consent. You retain full ownership and can request data deletion at any time.
UAE Regulatory & Data Privacy Adherence
Data Protection & Healthcare Compliance
DNA Labs UAE 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 anonymized, encrypted, and stored in ISO 27001-certified facilities. Explicit patient consent is mandatory before sample processing, and data sharing is strictly prohibited without written authorization. Patients retain full rights to access, correct, or request deletion of their data under UAE law. Clinical safety and patient consent protocols are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | FBN1 Gene NGS (Weill-Marchesani Syndrome Type 2) |
| Price (AED) | 2,800 |
| Turnaround Time | 10–14 business days |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Extracted DNA, or Buccal Swab |
| Methodology Used | Next-Generation Sequencing (NGS) – Full gene coverage, exon, intron-exon boundaries, & CNV detection |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 74891-3 |
| DHA Facility License & Laboratory Address | 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
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All reports reviewed by DHA-Certified physicians