Test Price
2,800 AEDโ Home Collection Available
FGFR1 Gene Jackson-Weiss Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% analytical sensitivity & specificity via ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139).
- VIP Mobile Phlebotomy & Cold-Chain Home Collection: Available daily from 8 AM to 11 PM for standard peripheral whole blood, serum, or plasma specimens.
- Post-Test Telephonic Guidance: Comprehensive result interpretation by a DHA-licensed Consultant Medical Geneticist.
- Insurance Direct Billing Verification: Confirm coverage via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The FGFR1 gene Jackson-Weiss syndrome NGS test sequences the entire coding region using next-generation sequencing to detect pathogenic variants associated with craniosynostosis and syndromic foot anomalies. This test is critical for early diagnosis, genetic counseling, and personalized treatment planning. All exons and flanking intronic regions are analyzed with Sanger confirmation and copy number variant (CNV) detection, ensuring comprehensive coverage of clinically relevant mutations.
| Feature | Our Test (NGS Full Gene) | Closest Alternative (Sanger Single Exon) |
|---|---|---|
| Precision | >99.9% analytical sensitivity & specificity for all coding regions | Targets only one exon; may miss deep intronic or regulatory variants |
| Method | NGS with Sanger confirmation & copy number variant (CNV) analysis | Sanger sequencing limited to known hotspot |
| Turnaround Time | 3โ4 Weeks | 2โ3 Weeks |
| Price (AED) | 2800 | ~1500 AED |
Physician Insight & Safety Protocols
โAs a DHA-licensed Consultant Medical Geneticist (Registration ID: 9294403), I emphasize that a positive genetic finding must be correlated with clinical and family history. A negative result does not exclude other genetic or non-genetic causes; further evaluation may be necessary. This test should never be interpreted in isolation; always consult a board-certified clinical geneticist for comprehensive post-test counseling.โ โ Lina Osama Zaki Quteineh
Pre-Test Genetic Counseling Advisory
โ ๏ธ Informed Consent Required: A pre-test genetic counseling session is strongly recommended to draw a detailed pedigree, discuss possible outcomes, and ensure informed consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. This session helps you understand the implications of genetic results for you and your family members.
Safety Exclusion & Emergency Red Flags
- Exclusion Criteria: Recent blood transfusion (within 4 weeks), allogeneic bone marrow transplant, or inability to provide a suitable sample (blood/DNA) may yield unreliable results. For alternative specimen options, contact our logistics team.
- Emergency Red Flags: If the patient exhibits signs of increased intracranial pressure โ severe headache, persistent vomiting, bulging fontanelle in infants, or altered consciousness โ seek immediate emergency medical attention. This test is not a substitute for urgent neurosurgical evaluation.
Patient FAQ & Clinical Guidance
1. What does the FGFR1 gene Jackson-Weiss syndrome NGS test detect?
Answer: This test identifies pathogenic variants in the FGFR1 gene causing Jackson-Weiss syndrome, a craniosynostosis disorder with characteristic foot anomalies. It analyzes all coding exons and flanking intronic regions using next-generation sequencing, and can detect single nucleotide variants, small insertions/deletions, and copy number changes. Results aid in confirming clinical diagnosis, guiding surgical planning, and providing accurate recurrence risk assessment for families.
2. How long does the test take and how is the sample collected?
Answer: The total turnaround time is 3 to 4 weeks after the laboratory receives your blood, extracted DNA, or FTA card blood spot. Our VIP mobile phlebotomy team collects the sample at your home, office, or hospital between 8 AM and 11 PM, using a certified cold chain to preserve DNA integrity. You may also submit a DNA sample or a single drop of blood on an FTA card if preferred.
3. Do I need a genetic counseling session before testing?
Answer: A pre-test genetic counseling session is strongly recommended to draw a detailed pedigree and ensure informed consent. During this session, our DHA-licensed Consultant Medical Geneticist will review your family history, explain possible outcomes, and discuss implications for you and your relatives. This step complies with UAE legal requirements and helps you make a fully informed decision.
UAE Regulatory & Data Privacy Adherence
Healthcare Compliance & Data Protection
This service is governed by 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 encrypted, stored in UAE-based secure servers, and never shared without explicit patient consent. Our laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and adheres to DHA/MOHAP standards for clinical genetic testing.
Clinical & Logistical Metadata
| Test Name | FGFR1 Gene Jackson-Weiss Syndrome NGS Test (Full Gene Sequencing) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger confirmation and CNV analysis |
| ICD-10-CM Code | Q87.0 |
| LOINC Code | 21757-9 |
| DHA Facility License & Address | License #1143 ยท Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians