Test Price
2,800 AED✅ Home Collection Available
FGFR1 Gene Sequencing for Pfeiffer Syndrome | 2,800 AED
Executive Summary & Core Metrics
Clinical Excellence in UAE: We deliver 99.9% diagnostic sensitivity for FGFR1‑related Pfeiffer syndrome using Next Generation Sequencing. Telephonic clinical guidance is included with every result.
Test Overview & Methodology
This genetic test uses Next Generation Sequencing (NGS) to analyze the entire FGFR1 gene for pathogenic variants that cause Pfeiffer syndrome, a rare craniosynostosis disorder. It is essential for confirming diagnosis in newborns and infants with premature suture fusion, guiding surgical planning, and enabling accurate genetic counselling for families.
| Feature | Our Test (NGS Full Gene Sequencing) | Traditional Sanger Sequencing |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) | Sanger Sequencing (hotspot only) |
| Coverage | Complete coding region & splice sites | Limited to known pathogenic variants |
| Diagnostic Sensitivity | 99.9% | ~85–90% |
| Turnaround Time | 3 to 4 weeks | 4 to 6 weeks |
| Price | 2,800 AED | Similar (variable) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics | DHA License: 9294403)
This test is a powerful diagnostic instrument that must always be interpreted alongside a complete physical examination and detailed family history. Early molecular confirmation of Pfeiffer syndrome allows families to access timely multidisciplinary care, significantly improving craniofacial and neurological outcomes. I strongly recommend both pre‑test and post‑test genetic counselling to fully grasp the implications of the result.
Medication Advisory
Do not discontinue any prescribed medication without consulting your doctor.
Safety Exclusion & Emergency Red Flags
- This genetic test is not intended for acute emergency evaluation.
- If the patient exhibits signs of raised intracranial pressure (persistent vomiting, lethargy, bulging fontanelle), breathing difficulties, or seizures, seek immediate emergency care.
- Patients on anticoagulant therapy should inform the phlebotomist before sample collection.
Patient FAQ & Clinical Guidance
1. What is the FGFR1 gene test used for?
The FGFR1 gene sequencing identifies pathogenic variants in the FGFR1 gene to confirm Pfeiffer syndrome, enabling early intervention and informed family planning decisions.
2. How is sample collection performed?
A simple blood draw or a small drop on an FTA card is collected at our ISO‑certified home service, ensuring no hospital visit required.
3. How long does it take to get results and what's included?
Results are delivered within 3 to 4 weeks, accompanied by a detailed genetic counselling report and telephonic guidance from our clinical experts.
UAE Regulatory & Data Privacy Adherence
We adhere to the 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 follow Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | FGFR1 Gene Sequencing for Pfeiffer Syndrome |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole Blood or FTA Card (Dried Blood Spot) |
| Methodology Used | Next Generation Sequencing (NGS) |
| ICD-10-CM Code | Q87.0 (Congenital malformation syndromes predominantly affecting facial appearance) |
| LOINC Code | 21684-6 |
| 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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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians