Test Price
2,800 AED✅ Home Collection Available
IRF6 Gene (Popliteal Pterygium Syndrome Type 1) Genetic Test in UAE
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity: NGS sequencing with Sanger confirmation, performed under ISO 9001:2015 certified process (Cert: INT/EGQ/2509DA/3139).
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection: Available daily from 8 AM to 11 PM across UAE. Sample integrity preserved via ISO-certified transport for whole blood, extracted DNA, or FTA card.
- Post-Test Clinical Guidance: Telephonic genetic counselling session with expert interpretation of IRF6 variant results.
- Insurance & Payment: Direct billing verification via WhatsApp +971 54 548 8731. Price: 2,800 AED.
Test Overview & Methodology
The IRF6 gene NGS test analyzes the entire coding region of the IRF6 gene to diagnose autosomal dominant Popliteal Pterygium Syndrome Type 1 (PPS1) and distinguish it from Van der Woude Syndrome. This test is essential for children with congenital popliteal webbing, cleft lip or palate, syndactyly, and genital anomalies. Early molecular confirmation enables precise surgical planning for popliteal web release, coordinated cleft repair, and informed recurrence risk counselling for families.
| Feature | Our Test (IRF6 NGS) | Closest Alternative |
|---|---|---|
| Methodology | NGS (Illumina NovaSeq) with Sanger confirmation | Single-gene Sanger sequencing only (IRF6) |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks (standard Sanger) |
| Variant Detection | Full coding plus flanking intronic regions; CNV analysis | Point mutations only; limited CNV detection |
| Sample Flexibility | Whole blood, extracted DNA, FTA card | Whole blood typically required |
| Cost | 2,800 AED | 2,200 to 2,500 AED (may lack clinical annotation) |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I emphasize that a positive IRF6 variant alone does not predict clinical severity—the phenotypic spectrum ranges from mild lip pits to extensive limb-webbing requiring staged surgical release. This molecular test must always be interpreted alongside a comprehensive dysmorphology assessment and three-generation family pedigree. Early genetic diagnosis directly informs reconstructive surgical timing and provides families with accurate recurrence risk counselling.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Safety Considerations
Do not discontinue any prescribed medication, especially anti-epileptics or immunosuppressants, without consulting your treating physician. Genetic testing does not replace ongoing clinical care.
Exclusion Criteria for Home Collection
- Active infection or haemodynamic instability: Patients are not eligible for home phlebotomy until medically cleared by their treating physician.
- Emergency red flags: Seek immediate medical attention if your child develops respiratory distress, aspiration, or feeding difficulties before or after testing—these are unrelated to the genetic test but critical in the context of PPS1.
Patient FAQ & Clinical Guidance
1. How does NGS testing for the IRF6 gene help in managing Popliteal Pterygium Syndrome?
NGS identifies pathogenic IRF6 mutations with 99.9% accuracy, enabling definitive diagnosis, guiding surgical timing for popliteal web release, and informing recurrence risk in future pregnancies. The comprehensive coverage of coding and flanking intronic regions ensures detection of splice-site variants that Sanger sequencing alone may miss.
2. What sample types are accepted and how is home collection arranged?
We accept whole blood, extracted DNA, or a single drop of blood on an FTA card. Our DHA-licensed VIP Mobile Phlebotomy team visits your home daily between 8 AM and 11 PM with temperature-controlled cold-chain transport, ensuring sample stability for the 3 to 4 week turnaround period. Collection is performed by certified phlebotomists following strict infection control protocols.
3. Is parental consent required for testing a child, and how are results delivered under UAE law?
Under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability, both parents must provide informed written consent for genetic testing of minors. Results are encrypted and released exclusively to the authorized treating physician, who coordinates a post-counselling telemedicine session with a consultant medical geneticist in English or Arabic. All genetic data is stored in UAE-based secure servers with strict access controls.
4. What does the 2,800 AED fee cover, and is insurance accepted?
The all-inclusive fee covers: NGS sequencing with Sanger confirmation, clinical interpretation by a consultant medical geneticist, a detailed molecular report, and a telephonic genetic counselling session. We offer direct billing with major UAE insurers via WhatsApp +971 54 548 8731. Self-pay patients receive a VAT receipt for reimbursement claims.
UAE Regulatory & Data Privacy Adherence
This service complies 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. All genetic data is anonymized during analysis, encrypted in transit and at rest, and stored on UAE-based ISO 27001-certified servers. Informed consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. ISO 9001:2015 Certification: INT/EGQ/2509DA/3139. DHA Facility License: 1143. DNA Labs UAE is fully licensed by the Dubai Health Authority for genetic diagnostic services.
Clinical & Logistical Metadata
| Test Name | IRF6 Gene (Popliteal Pterygium Syndrome Type 1) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or FTA card blood spot |
| Methodology Used | Next-Generation Sequencing (Illumina NovaSeq) with Sanger confirmation |
| ICD-10-CM Code | Q87.0 (Congenital malformation syndromes predominantly affecting facial appearance), Q79.8 (Other congenital malformations of musculoskeletal system) |
| LOINC Code | 92282-3 (IRF6 gene sequencing in Blood) |
| DHA Facility License & Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians