Test Price
2,800 AEDโ Home Collection Available
FGFR2 Gene Sequencing for Craniosynostosis & Dysmorphology (NGS) in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary Comprehensive FGFR2 gene analysis using advanced next-generation sequencing with ultra-high diagnostic accuracy.
- โAccuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified NGS processing.
- โPremium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- โClinical Guidance: Complimentary telephonic post-test interpretation with a DHA-licensed genetic counselor.
- โInsurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing test analyzes the entire coding region of the FGFR2 gene to detect pathogenic variants associated with craniosynostosis syndromes (scaphocephaly, Crouzon, Apert, Pfeiffer), maxillary retrusion, and intellectual disability. The method employs Illumina NGS with confirmatory Sanger sequencing to ensure 99.9% analytical sensitivity across all exons and splice sites.
| Feature | Our Test (NGS) | Standard Single-Gene Sanger |
|---|---|---|
| Precision | 99.9% analytical sensitivity; all exons + splice sites | ~99% but limited to known hotspots |
| Method | Illumina NGS with confirmatory Sanger | Sanger sequencing of selected exons |
| Speed | 3โ4 weeks (complete gene coverage) | 6โ8 weeks (sequential testing) |
| Clinical Actionability | Full variant interpretation per ACMG guidelines | Limited to known mutations |
Physician Insight & Safety Protocols
โThis test is a vital tool for diagnosing FGFR2-related craniosynostosis syndromes, but it must be interpreted alongside clinical findings and genetic counseling. I advise discussing results with a pediatric geneticist. Never stop prescribed medications without your doctor's approval.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication and Clinical Management
Do not discontinue or adjust any prescribed medication without direct consultation with your treating physician. This genetic test does not replace ongoing clinical management.
Safety & Exclusion Criteria
- Not intended for asymptomatic minors without clinical indication or prior genetic counseling in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion: Patients on high-dose anticoagulants (blood draw contraindication) unless cleared by a physician.
- Emergency Red Flags: Seek immediate medical attention if experiencing increased intracranial pressure symptoms (severe headaches, vomiting, vision changes) regardless of test status.
- Home collection phlebotomists are trained to manage minor adverse events; 24/7 hotline available.
Patient FAQ & Clinical Guidance
1. What does this FGFR2 NGS test detect, and who should consider it?
This test sequences the entire FGFR2 gene to identify pathogenic variants causing craniosynostosis, midface hypoplasia, and intellectual disability, making it essential for early diagnosis in infants with skull abnormalities. Clinicians, including pediatricians and clinical geneticists, may recommend it for syndromic craniosynostosis, familial history, or dysmorphic features. Genetic counseling is mandatory.
2. How is the sample collected, and what is the turnaround time?
A certified phlebotomist performs a simple venous blood draw at your home using a cold-chain kit, or you may submit a dried blood spot on an FTA card, with results delivered in 3โ4 weeks. The lab accepts whole blood (EDTA tube), extracted DNA, or FTA card. Home collection is available daily 8 AMโ11 PM. The test takes 21โ28 working days due to complex bioinformatics analysis.
3. Is this test covered by insurance in the UAE?
Many UAE insurers cover FGFR2 NGS testing when medically necessary; our team verifies your coverage before the draw and manages direct billing to streamline your experience. We require a valid referral from a DHA-licensed physician. For pre-authorization, send your insurance card and referral via WhatsApp to +971 54 548 8731. Self-pay options are also available at 2800 AED.
UAE Regulatory & Data Privacy Adherence
Data Privacy: This service fully complies 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 anonymized and stored on encrypted servers within the UAE. Patient consent is obtained in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Laboratory Accreditation: DHA Facility License: 1143 | ISO 9001:2015 Certified (INT/EGQ/2509DA/3139). Corporate Lab: DNA Labs UAE.
Clinical & Logistical Metadata
| Test Name | FGFR2 Gene Sequencing for Craniosynostosis & Dysmorphology (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 weeks (21โ28 working days) |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (Illumina) with confirmatory Sanger sequencing |
| ICD-10-CM Code | Q87.0 (Congenital malformation syndromes predominantly affecting facial appearance) |
| LOINC Code | 21636-0 (FGFR2 gene mutation analysis) |
| DHA Facility License & Laboratory Address | Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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