Test Price
2,800 AED✅ Home Collection Available
FGFR2 Gene Beare‑Stevenson Cutis Gyrata Syndrome Genetic Test in UAE | 2,800 AED | DHA Certified
Executive Summary & Core Metrics
- Diagnostic Sensitivity: 99.9% via ISO‑accredited next‑generation sequencing (NGS) processing.
- Turnaround Time: 21–28 calendar days from sample receipt to comprehensive clinical report.
- Clinical Guidance: Post‑test telephonic consultation with a Consultant Medical Genetics specialist included.
- Insurance & Billing: Direct billing verification available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The FGFR2 gene Beare‑Stevenson cutis gyrata syndrome test employs next‑generation sequencing to detect pathogenic variants responsible for this rare craniofacial‑cutaneous disorder. It provides definitive molecular confirmation in patients presenting with cutis gyrata, acanthosis nigricans, and craniosynostosis, enabling precise genetic counselling and anticipatory surveillance.
| Feature | Our Test (NGS Panel) | Closest Alternative (Single‑Site) |
|---|---|---|
| Precision | Full gene sequencing with >99% analytical sensitivity | Targets only known familial mutation |
| Methodology | NGS (Next‑Generation Sequencing) with comprehensive bioinformatic analysis | Sanger sequencing or PCR‑based detection |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks |
| Patient Sample | Whole blood, extracted DNA, or dried blood spot (FTA card) | Whole blood (EDTA) |
Physician Insight & Safety Protocols
“Genetic diagnosis of Beare‑Stevenson syndrome is not merely a laboratory result — it is a gateway to anticipatory surveillance for craniosynostosis complications and tailored dermatologic care. I strongly encourage pre‑ and post‑test genetic counselling to interpret the findings within your child’s full clinical context.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice on Ongoing Treatments
Do not discontinue or alter any prescribed medication or therapy without consulting your treating physician. This genetic test provides diagnostic information and does not replace clinical judgment or modify current treatment regimens.
Exclusion Criteria & Emergency Red Flags
- Infants under 2 weeks of age — sample collection requires prior paediatric evaluation.
- Severe coagulopathy — ensure bleeding risk is assessed and managed before blood draw.
- Red Flag: Signs of raised intracranial pressure (persistent vomiting, sunsetting eyes, bulging fontanelle) require immediate emergency evaluation, not genetic testing.
- Active systemic infection — reschedule collection until clinically stable.
Patient FAQ & Clinical Guidance
1. What conditions does this FGFR2 genetic test diagnose?
This NGS panel detects FGFR2 pathogenic variants linked to Beare‑Stevenson cutis gyrata syndrome, a distinctive disorder featuring skin furrowing and early skull fusion. It also rules out overlapping FGFR‑related craniosynostosis syndromes, providing a precise molecular diagnosis to guide clinical management.
2. How is the sample collected and is home phlebotomy available?
A certified phlebotomist visits your home between 8 AM and 11 PM daily to collect 2–3 ml of whole blood into an EDTA tube or a finger‑prick dried blood spot on an FTA card. Temperature‑controlled cold‑chain transport preserves DNA integrity throughout the logistics process.
3. When will I receive the results and who explains them?
Your comprehensive genetic report is delivered within 3 to 4 weeks from sample receipt. A telephonic consultation with our Consultant Medical Genetics specialist is included to interpret the findings and discuss clinical implications. Urgent preliminary results are communicated immediately if clinically indicated.
4. Does my insurance cover this test?
Direct billing verification is available through our insurance team. Please forward your policy details via WhatsApp at +971 54 548 8731 to confirm coverage eligibility before sample collection.
5. What preparation is required before the blood draw?
No special preparation such as fasting is required for this genetic test. However, please inform the phlebotomist of any anticoagulant medications or bleeding disorders prior to collection.
UAE Regulatory & Data Privacy Adherence
All genetic test results and associated personal health data are 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. Clinical safety and patient consent protocols follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. DNA Labs UAE operates under DHA Facility License No. 1143, ensuring strict adherence to Dubai Healthcare City regulatory standards.
Clinical & Logistical Metadata
| Test Name | FGFR2 Gene Beare‑Stevenson Cutis Gyrata Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (21–28 calendar days) |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) |
| Methodology Used | Next‑Generation Sequencing (NGS) with comprehensive bioinformatic analysis |
| ICD‑10‑CM Code | Q87.8 (Other specified congenital malformation syndromes affecting multiple systems) |
| LOINC Code | 82757-6 (FGFR2 gene full sequencing analysis) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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