Test Price
2,800 AED✅ Home Collection Available
FGFR2 Gene Pfeiffer Syndrome Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
This Next-Generation Sequencing (NGS) test provides a definitive genetic diagnosis for Pfeiffer syndrome by analyzing the entire FGFR2 gene. Delivered with full regulatory compliance and premium service options, it empowers families and physicians with actionable clinical insights.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) test comprehensively analyzes the FGFR2 gene for pathogenic variants associated with Pfeiffer syndrome, a rare craniosynostosis disorder. With a turnaround time of 3–4 weeks and a price of 2,800 AED, it delivers definitive diagnostic clarity for families and physicians.
| Feature | Our Test (NGS Whole Gene) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) | Sanger sequencing of selected exons |
| Detection Coverage | Full coding region & splice sites of FGFR2 | Limited to hotspot exons (e.g., IgIII) |
| Diagnostic Sensitivity | >99.9% for SNVs/indels | ~95% for selected mutations |
| Turnaround Time | 3 – 4 Weeks | 4 – 6 Weeks (if multiple exons needed) |
| Price (AED) | 2,800 | 2,100 – 3,500 |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics with specialized training in rare craniosynostosis disorders, I confirm that this NGS-based FGFR2 gene analysis provides definitive diagnostic clarity for Pfeiffer syndrome. However, genetic results must always be correlated with clinical findings by a qualified genetics professional.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication and Treatment Continuation
Do not discontinue any prescribed medication or alter treatment plans without consulting your physician. Genetic test results do not replace ongoing clinical management.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients with a confirmed non-FGFR2 craniosynostosis syndrome (e.g., FGFR1 or TWIST1 mutations) should not rely on this test alone; reflex to a broader panel is advised.
- Emergency: If the patient develops signs of raised intracranial pressure — severe headache, persistent vomiting, lethargy, bulging fontanelle in infants — seek emergency care immediately.
- Note: This test is not designed for somatic mosaicism detection in tumor tissue.
Patient FAQ & Clinical Guidance
1. What does the FGFR2 NGS test for Pfeiffer syndrome detect?
It detects mutations across the entire Fibroblast Growth Factor Receptor 2 gene (FGFR2), including missense, nonsense, and splice-site variants responsible for Pfeiffer syndrome types 1–3. This provides a diagnostic sensitivity exceeding 99.9% for single nucleotide variants and small insertions/deletions.
2. How is the sample collected, and is home service available?
A simple blood draw or FTA card spot can be collected at home by our ISO-certified phlebotomist from 8 AM to 11 PM. The sample is maintained in a temperature-controlled cold chain to ensure stability and integrity during transport to our ISO-accredited laboratory.
3. What is the clinical utility of this test for my family?
It enables precise diagnosis for early surgical planning, genetic counseling, and risk assessment for future pregnancies. Results are interpreted in conjunction with clinical findings by our genetics team to guide management and family planning decisions.
UAE Regulatory & Data Privacy Adherence
This test is performed under the regulatory oversight of the Dubai Health Authority (DHA) as per DHA Facility License No. 1143. All patient data is processed in accordance 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 informed consent follow the provisions of Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory operations adhere to ISO 15189 standards for medical laboratory quality and competence.
Clinical & Logistical Metadata
| Test Name | FGFR2 Gene Sequencing (Pfeiffer Syndrome) – Next-Generation Sequencing |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL EDTA) or FTA card spot |
| Methodology Used | Next-Generation Sequencing (NGS) – Whole gene & splice site analysis |
| ICD-10-CM Code | Q87.0 |
| LOINC Code | 83800-5 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians