Test Price
2,800 AED✅ Home Collection Available
FGFR2 Gene Apert Syndrome Genetic Test in UAE – NGS Confirmation & Clinical Guidance
Executive Summary & Core Metrics
- ✓Diagnostic Accuracy: 99.9% sensitivity via ISO 9001:2015 certified NGS processing on Illumina® platform, achieving 100x mean depth across all FGFR2 coding exons and splice junctions.
- ✓Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM, with ISO-certified specimen transport and real-time chain-of-custody tracking.
- ✓Clinical Guidance: Post-test telephonic consultation with a DHA-licensed Consultant Medical Geneticist for comprehensive result interpretation and multidisciplinary referral planning.
- ✓Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731; transparent pricing with no hidden laboratory fees.
Test Overview & Methodology
The FGFR2 Gene Apert Syndrome NGS Test analyzes the full coding sequence, intronic boundaries (±20 bp), and untranslated regions of the FGFR2 gene using next‑generation sequencing on an Illumina® platform. This definitive molecular assay confirms or excludes a clinical diagnosis of Apert syndrome (acrocephalosyndactyly type I) with orthogonal Sanger confirmation of all clinically significant variants. The test is recommended by pediatricians, neonatologists, and clinical geneticists for children presenting with craniosynostosis, syndactyly, and midface hypoplasia.
| Feature | DNA Labs UAE NGS Test | Standard Single‑Gene Sanger Alternative |
|---|---|---|
| Precision | 100x mean depth, all exons ±20 bp intronic flanks, full CNV analysis | Limited to selected exons; may miss deep intronic or regulatory variants |
| Methodology | Next‑Generation Sequencing (Illumina® platform) + orthogonal Sanger confirmation | Bidirectional Sanger sequencing only |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Price | 2,800 AED | 1,800–2,500 AED (variable lab costs) |
Physician Insight & Safety Protocols
"The FGFR2 NGS assay provides the molecular confirmation necessary to guide surgical planning in craniosynostosis syndromes. A positive result mandates immediate referral to a multidisciplinary team including craniofacial surgery, clinical genetics, and developmental pediatrics. Negative results in phenotypically strong cases warrant reflex whole‑exome sequencing to evaluate for FGFR2-related disorders such as Crouzon or Pfeiffer syndromes."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory & Pre-Test Counseling Requirements
UAE Federal Decree‑Law No. 4 of 2016 on Medical Liability mandates that all genetic testing must be preceded by an informed consent process that includes discussion of potential findings, inheritance patterns, and psychosocial implications. Pre‑test genetic counseling with a certified specialist is a regulatory requirement before proceeding with FGFR2 analysis.
Medication & Safety Notice
Do not discontinue any prescribed medication without consulting your doctor.
- Exclusion Criteria: Inability to provide informed consent; recent allogeneic blood transfusion within two weeks; sample volume below 1 mL for whole blood; active severe infection at venipuncture site.
- Emergency Red Flags: Uncontrolled bleeding, expanding hematoma, or signs of cellulitis at the collection site require immediate medical evaluation. A pathogenic FGFR2 variant result requires urgent referral to a craniofacial surgeon and clinical geneticist for coordinated care.
Patient FAQ & Clinical Guidance
1. What is the FGFR2 genetic test and what conditions does it detect?
This next‑generation sequencing test identifies pathogenic and likely pathogenic variants in the FGFR2 gene to confirm a diagnosis of Apert syndrome (acrocephalosyndactyly type I). It also detects variants associated with Crouzon syndrome, Pfeiffer syndrome, and other FGFR2‑related craniosynostosis disorders. The test achieves 99.9% sensitivity for sequence variants and detects copy‑number changes across the gene locus.
2. Is pre‑test genetic counseling mandatory before this test?
Yes. UAE Federal Decree‑Law No. 4 of 2016 on Medical Liability requires that all genetic testing must be preceded by a certified genetic counseling session. This consultation maps the family pedigree, discusses inheritance patterns, reviews the potential implications of positive, negative, and uncertain results, and obtains written informed consent. DNA Labs UAE coordinates this session with a DHA‑licensed Consultant Medical Geneticist as part of the testing pathway.
3. How is the sample collected and what is the turnaround time?
A trained phlebotomist collects a peripheral whole blood sample (3–5 mL in an EDTA tube) during a VIP mobile home visit scheduled daily from 8 AM to 11 PM. The specimen is transported under temperature‑controlled cold chain to our ISO‑certified laboratory. Results are delivered within 3–4 weeks from sample receipt. Pre‑extracted DNA or archival blood spots on FTA cards are also accepted with prior laboratory coordination.
4. What should I do if the test reveals a pathogenic variant?
A positive result indicating a pathogenic FGFR2 variant triggers an immediate multidisciplinary care pathway. The post‑test telephonic consultation with our Consultant Medical Geneticist will explain the result, coordinate referral to a craniofacial surgeon, clinical geneticist, and developmental pediatrician, and discuss recurrence risks for family planning. Genetic counseling for first‑degree relatives is also recommended.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in strict compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) for all genetic data collection, processing, storage, and sharing. Patient genetic information is encrypted, access‑controlled, and retained only for the clinically necessary duration. Our laboratory also adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology (ICT) in Health Fields, ensuring all electronic health records and diagnostic data meet the UAE's highest cybersecurity and confidentiality standards. DHA Facility License: 1143 authorizes all genetic testing performed at our Dubai Healthcare City premises.
Clinical & Logistical Metadata
| Test Name | FGFR2 Gene Apert Syndrome NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt at laboratory |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube, 3–5 mL), extracted DNA, or FTA card blood spot. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next‑Generation Sequencing (Illumina® platform) with orthogonal Sanger confirmation of clinically significant variants; CNV analysis included. |
| ICD-10-CM Code | Q87.0 (Congenital malformation syndromes predominantly affecting facial appearance – Apert syndrome) |
| LOINC Code | 21636-1 (FGFR2 gene mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab: DNA Labs UAE. |
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