Test Price
2,800 AEDโ Home Collection Available
FBLN5 Gene Cutis Laxa Type 1A Genetic Test in UAE
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% analytical sensitivity via ISO 15189 accredited Next-Generation Sequencing covering the full FBLN5 coding region and splice sites.
- Specimen Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all UAE emirates.
- Clinical Interpretation: Post-test telephonic genetic counselling session provided by a DHA-licensed Consultant Medical Geneticist to contextualize results within family pedigree.
- Insurance Liaison: Direct billing verification supported via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The FBLN5 gene encodes fibulin-5, an extracellular matrix protein essential for elastic fiber assembly. Pathogenic variants in FBLN5 cause autosomal recessive cutis laxa type 1A, a multisystem disorder characterized by loose, inelastic skin, pulmonary emphysema, and vascular aneurysms. This NGS-based diagnostic test provides complete sequence coverage of all exons and flanking intronic regions, enabling definitive molecular confirmation and accurate carrier detection for at-risk family members.
| Comparative Feature | FBLN5 NGS Test (Our Service) | Standard Alternative |
|---|---|---|
| Sequencing Scope | Full gene coding regions, splice sites, and deep intronic hotspots | Targeted mutation panel โ misses novel and rare variants |
| Analytical Sensitivity | 99.9% for single nucleotide variants and small indels | ~90% with Sanger sequencing alone |
| Turnaround Time | 3โ4 weeks including home collection logistics | 4โ6 weeks, clinic-only draw required |
Physician Insight & Safety Protocols
โConfirming a diagnosis of cutis laxa type 1A through comprehensive FBLN5 sequencing is essential for tailored surveillance of pulmonary function and vascular integrity. I advise all referring clinicians to pair molecular results with a three-generation pedigree analysis and baseline echocardiography. This integrated approach minimizes diagnostic delay and enables proactive management of emphysema and aortic root dilatation.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice
Pre-Test Genetic Counselling Required
A mandatory pre-test counselling session must be completed to document personal and family medical history, discuss potential implications of germline findings, and obtain written informed consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. Do not alter or discontinue any prescribed therapy without direct consultation with your managing physician.
Exclusion Criteria
- Active severe infection or uncontrolled systemic illness โ defer collection until clinical stability is confirmed.
- Known hemophilia, von Willebrand disease, or platelet disorder with bleeding risk โ requires hematology clearance prior to venipuncture.
- Inability to provide informed consent; minors must have consent from a legal guardian as specified under Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Emergency warning signs: sudden chest pain, acute dyspnea, or symptoms suggestive of aortic dissection or rupture โ seek immediate emergency care; this test is not a substitute for urgent clinical evaluation.
Patient FAQ & Clinical Guidance
1. What is the FBLN5 gene test and what conditions does it diagnose?
The FBLN5 NGS test sequences the entire fibulin-5 gene to detect pathogenic variants responsible for autosomal recessive cutis laxa type 1A. This condition presents with sagging, redundant skin, early-onset pulmonary emphysema, and arterial aneurysms. The test provides a definitive molecular diagnosis, distinguishes type 1A from other connective tissue disorders, and enables accurate carrier testing for siblings and parents.
2. How should I prepare for the test and what is the expected turnaround?
No fasting or medication adjustments are needed. A mandatory genetic counselling session will be scheduled to record your three-generation family pedigree and obtain informed consent. A certified phlebotomist visits your home between 8 AM and 11 PM to collect a peripheral blood sample or FTA card spot. Results are delivered securely within 3โ4 weeks, followed by a telephonic interpretation session with our Consultant Medical Geneticist.
3. Which specialists manage cutis laxa type 1A and how is the condition monitored?
A multidisciplinary team coordinates lifelong care: a clinical geneticist confirms the diagnosis and guides family screening, a dermatologist assesses skin laxity and wound healing, a pulmonologist monitors lung function with spirometry and imaging due to the high risk of emphysema, and a cardiologist performs periodic echocardiography to surveil aortic root dimensions. Our UAE network provides access to all these specialties for coordinated follow-up.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection
All genetic data generated by this test is processed and stored in full compliance with 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. Patient consent, sample handling, and result disclosure follow the standards set by Federal Decree-Law No. 4 of 2016 on Medical Liability. No genetic information is shared with third parties without explicit written authorization.
DNA Labs UAE holds DHA Facility License Number 1143 and operates under the regulatory oversight of the Dubai Health Authority and the UAE Ministry of Health and Prevention.
Clinical & Logistical Metadata
| Test Name | FBLN5 Gene Cutis Laxa Type 1A Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), FTA Card, or Extracted Genomic DNA |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Gene Coverage |
| ICD-10-CM Code | Q82.8 |
| LOINC Code | 81254-5 |
| DHA Facility License & Address | License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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