Test Price
2,800 AED✅ Home Collection Available
FGFR1 Gene Craniosynostosis Genetic Test (NGS) in Dubai & UAE | 2,800 AED
Executive Summary & Core Metrics
- ✓ Diagnostic Precision: >99.9% Sensitivity via Next-Generation Sequencing (NGS) for full FGFR1 coding regions, exon-intron boundaries, and CNV analysis.
- ✓ Accredited Processing: ISO 9001:2015 Certified Laboratory (Cert: INT/EGQ/2509DA/3139) with strict UAE quality assurance protocols.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- ✓ Clinical Guidance: Complimentary post-test telephonic consultation with a DHA-licensed Consultant Medical Geneticist for result interpretation and family planning.
- ✓ Insurance & Billing: Direct Billing Verification and cashless options available via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This comprehensive next-generation sequencing (NGS) assay interrogates the entire FGFR1 gene to detect pathogenic and likely pathogenic variants associated with syndromic and non-syndromic craniosynostosis, including Pfeiffer syndrome type 1 and Jackson-Weiss syndrome. Designed for clinical geneticists, paediatric neurosurgeons, and neonatologists, it delivers a definitive molecular diagnosis that guides critical surgical timing, post-natal management, and recurrence risk counselling. The test also detects copy number variants (CNVs) and deep intronic variants that are typically missed by standard single-gene or panel-based Sanger sequencing.
| Feature | Our Test (FGFR1 NGS) | Closest Alternative (Targeted Sanger / CMA) |
|---|---|---|
| Precision & Scope | >99.9% sensitivity; full gene sequencing + CNV & intronic analysis | Limited to pre-identified familial mutations or large chromosomal anomalies |
| Methodology | Next-Generation Sequencing (NGS) with robust bioinformatic annotation | Sanger Sequencing or Chromosomal Microarray (CMA) |
| Turnaround Time | 3–4 weeks (comprehensive analysis & clinical interpretation) | 1–2 weeks (significantly limited diagnostic yield) |
| Clinical Utility | Confirms syndromic subtype, guides surgical timing & predicts recurrence | Often requires secondary, tertiary testing leading to diagnostic delays |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Geneticist, I emphasize that the FGFR1 NGS test provides a powerful molecular lens for diagnosing craniosynostosis syndromes. However, a definitive diagnosis must always integrate this genetic data with a thorough clinical evaluation, intracranial imaging, and a detailed three-generation pedigree analysis. This integrated approach empowers the care team to personalize surgical timing, anticipate multi-system involvement, and provide accurate recurrence risk counselling. A negative result does not rule out a clinical diagnosis, and pre-test genetic counselling remains essential.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication & Clinical Precautions
Do not discontinue or alter any prescribed medications, including anti-epileptics or analgesics, without explicit instruction from the treating paediatrician or neurosurgeon. This genetic test is an adjunct to, not a replacement for, rigorous clinical monitoring.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inadequate sample quality (clotting, haemolysis, or degradation); known somatic mosaicism below 5% variant allele frequency may not be reliably reported; individuals with clinical features suggesting a different multi-gene syndrome may require an extended craniosynostosis panel.
- Emergency Red Flags: If the infant exhibits signs of raised intracranial pressure (bulging fontanelle, sunsetting eyes, persistent vomiting, lethargy, or seizures), seek emergency paediatric neurosurgical evaluation immediately. Do not await genetic test results for acute surgical intervention.
- Consent Requirement: Informed consent must be obtained by a qualified genetic counsellor or medical geneticist prior to sample collection and testing.
Patient FAQ & Clinical Guidance
1. What is the FGFR1 gene craniosynostosis NGS test, and why is it recommended?
Answer: This advanced next-generation sequencing test analyzes the entire FGFR1 gene to detect pathogenic variants causing syndromic craniosynostosis, such as Pfeiffer Syndrome (type 1) and Jackson-Weiss Syndrome. It provides a definitive molecular diagnosis to guide surgical timing, predict prognosis, and inform family planning. It is strongly recommended by clinical geneticists and paediatric neurosurgeons when a physical exam and 3D CT imaging suggest coronal, lambdoid, or multi-suture craniosynostosis.
2. How should I prepare for the test, and what are the associated risks?
Answer: No specific preparation, fasting, or lifestyle changes are required. A certified paediatric phlebotomist will collect a small whole blood sample from the child or infant. For neonates, a minimally invasive dried blood spot (FTA card) can be used as an alternative to venipuncture. The primary risk is minor bruising at the puncture site. A mandatory pre-test genetic counselling session is recommended to review the pedigree, discuss potential outcomes, and obtain informed consent.
3. When will I receive the results, and how are they interpreted?
Answer: The comprehensive clinical report is delivered within 3 to 4 weeks of sample receipt. Results are classified according to strict ACMG/AMP guidelines into five tiers: Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign, and Benign. A DHA-licensed Consultant Medical Geneticist will provide a complimentary telephonic consultation to explain the findings, discuss the inheritance pattern, and, if necessary, coordinate a referral to a paediatric craniofacial team in Dubai or Abu Dhabi.
4. What is the advantage of this NGS test over standard single-gene sequencing?
Answer: Traditional Sanger sequencing or chromosomal microarray analysis is often limited to detecting known familial mutations or large chromosomal gains/losses. This NGS test sequences the entire FGFR1 coding region and exon-intron boundaries, and simultaneously identifies copy number variants (CNVs). This comprehensive approach provides >99.9% diagnostic sensitivity, reduces the need for sequential reflexive tests, and saves critical time in acute neonatal or paediatric neurosurgical settings.
UAE Regulatory & Data Privacy Adherence
This diagnostic procedure is performed under the auspices of DNA Labs UAE (DHA Facility License Number: 1143). All aspects of clinical testing, patient data handling, and reporting strictly comply with the following UAE federal legal frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring robust patient data privacy, consent management, and secure processing.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating the secure electronic storage and transmission of health information.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – governing clinical safety protocols, patient consent, and professional accountability in diagnostic testing.
Patients have the right to access their genetic data, request data portability, and obtain clarity on data retention and deletion policies directly through our DHA-compliant data protection officer.
Clinical & Logistical Metadata
| Test Name | FGFR1 Gene Craniosynostosis Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene & CNV Analysis |
| ICD-10-CM Code | Q75.0, Q87.0 |
| LOINC Code | 94238-2 |
| DHA Facility License & Laboratory Address | Facility 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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