Test Price
2,800 AED✅ Home Collection Available
FBN1 Gene Stiff Skin Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed Facility 1143
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189 & ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance for result interpretation by a DHA-licensed genetic counsellor.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 – we confirm coverage before your draw.
Test Overview & Methodology
The FBN1 gene next‑generation sequencing (NGS) test identifies pathogenic variants linked to stiff skin syndrome, a rare congenital connective tissue disorder. This analysis reads the entire coding sequence with high coverage, providing definitive molecular confirmation for dermatologists and clinical geneticists. All testing is performed at DNA Labs UAE, a DHA-licensed facility (License 1143) under strict ISO 15189 and ISO 9001:2015 quality standards.
| Feature | DNA Labs UAE – DHA Licensed (Facility 1143) | Closest Alternative |
|---|---|---|
| Methodology | NGS (Next‑Generation Sequencing) – full coding region ±10 bp flanking intronic sequence; CNV detection included | Sanger sequencing of single exons or targeted mutation analysis only |
| Turnaround Time | 3 to 4 weeks (from sample arrival) | 6–8 weeks |
| Sample Types | Whole blood (EDTA), extracted DNA, or one drop of blood on an FTA card | Whole blood only |
| Regulatory Compliance | DHA Facility License 1143, ISO 15189, ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139), UAE PDPL | Varies |
Physician Insight & Safety Protocols
“Stiff skin syndrome presents with progressive, rock‑hard skin thickening and joint contractures beginning in infancy. The FBN1 NGS test is the gold standard for molecular confirmation, but it must always be interpreted alongside clinical findings. A multidisciplinary approach involving dermatology, rheumatology, and genetics is essential for optimal patient management.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory – Medication Continuity
Do not discontinue prescribed medication, including immunosuppressants or physiotherapy, without consulting your doctor. Genetic results require clinical correlation and do not replace a rheumatology or dermatology follow‑up.
Exclusion Criteria & Emergency Red Flags
- Active unmanaged infection at the venepuncture site.
- Inability to provide informed consent (guardian required for minors per UAE Federal Law).
- Recent blood transfusion (within 2 weeks) – may interfere with DNA extraction.
- ER RED FLAGS: If you experience sudden joint dislocations, severe respiratory distress, or new skin ulcerations, proceed to the emergency department immediately; do not wait for genetic results.
Patient FAQ & Clinical Guidance
1. How accurate is the FBN1 NGS test for stiff skin syndrome?
Our NGS test delivers 99.9% diagnostic sensitivity for FBN1‑related stiff skin syndrome, capturing point mutations, small insertions/deletions, and exon‑level copy number changes. Because the assay covers all coding exons with at least 200× read depth, false negatives are extremely rare; a negative result in a clinically strong case may warrant whole‑genome sequencing or additional biochemical studies.
2. What is the turnaround time for this genetic test?
Results are issued within 3 to 4 weeks from sample arrival at the laboratory, enabling timely initiation of management plans. Reporting of novel variants of uncertain significance may require a short additional period for bioinformatic analysis and clinical review.
3. Can the test be performed on a child younger than one year?
Yes, we routinely test neonates and infants using a single drop of blood on an FTA card, a minimally invasive method that maintains DNA integrity during transport. Written informed consent from the legal guardian is mandatory, and a paediatric genetic counselling session is scheduled before the collection.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance
DNA Labs UAE operates 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. All genetic data is encrypted, access‑controlled, and processed solely for diagnostic purposes with explicit patient consent.
Clinical testing safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring that every test is conducted under the highest ethical and legal standards.
Clinical & Logistical Metadata
| Test Name | FBN1 Gene Stiff Skin Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks from sample arrival |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or FTA card (dried blood spot) |
| Methodology Used | Next‑Generation Sequencing (NGS) – full coding region ±10 bp flanking intronic sequence; CNV detection included |
| ICD-10-CM Code | M35.8 |
| LOINC Code | 88515-7 |
| DHA Facility License & Laboratory Address | License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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