Test Price
2,800 AED✅ Home Collection Available
POLE Gene (FILS Syndrome) Genetic Test in UAE | 2800 AED | DHA-Licensed NGS Diagnostics
Executive Summary & Core Metrics
Accuracy Guarantee
Diagnostic Sensitivity: 99.9% via ISO 9001:2015 Accredited Next-Generation Sequencing 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 Genetic Counseling and result interpretation by a DHA-certified Consultant Medical Geneticist.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The POLE Gene (FILS Syndrome) Genetic Test is a comprehensive next-generation sequencing analysis that identifies pathogenic variants in the POLE gene, responsible for Facial dysmorphism, Immunodeficiency, Livedo, and Short stature (FILS syndrome). Our Dubai-based, DHA-licensed facility delivers results in 3–4 weeks with 99.9% sensitivity, empowering pediatricians and geneticists to make precise clinical decisions. The assay provides full exon and intron-exon boundary coverage, detecting single nucleotide variants, small insertions and deletions, and copy number variants classified according to ACMG guidelines.
Our Test vs. Closest Alternative
| Parameter | Our POLE NGS Test | Sanger Sequencing (Alternative) |
|---|---|---|
| Precision | >99.9% (full exon coverage, copy number variants) | ~99% (selected exons only) |
| Methodology | Next-Generation Sequencing (NGS) – ISO 9001:2015 accredited | Sanger Sequencing of individual exons/amplicons |
| Turnaround Time | 3 – 4 Weeks | 4 – 6 Weeks |
| Comprehensive Genetic Analysis | Detects SNVs, indels, and CNVs pathogenicity classified per ACMG | Limited to single-nucleotide variants; requires multiple runs |
| Cost (AED) | 2800 | 2000 – 3500 (for partial gene coverage) |
Physician Insight & Safety Protocols
“Comprehensive next-generation sequencing of the POLE gene offers definitive molecular confirmation for FILS syndrome, reaching a diagnostic yield of over 99% when full exon and intron-exon boundary coverage is achieved. It is critical, however, to correlate all detected variants with the patient’s clinical phenotype and to pursue segregation analysis in family members when possible. As a Consultant Medical Genetics, I strongly recommend pre-test and post-test genetic counseling to ensure families fully understand the implications of their genetic results.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory
Genetic test results must never be used as the sole basis for initiating, modifying, or discontinuing any medical treatment or immunotherapy regimen. All clinical decisions should be made by the treating physician in conjunction with the patient’s complete medical history, physical examination findings, and appropriate laboratory parameters. Patients and families should continue all prescribed therapies until explicitly advised otherwise by their healthcare provider.
Important Exclusion Criteria & Safety Considerations
- Exclusion Criteria: Acute febrile illness requiring hospitalization; patients unable to provide a suitable DNA sample (e.g., severe leukopenia following recent chemotherapy); unaccompanied minors without documented parental consent for genetic testing as mandated by Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flags: If the child develops sudden high fever (>39°C), seizures, respiratory distress, or signs of severe sepsis, immediate emergency department evaluation is required; genetic testing can be safely deferred.
- Pre-test Requirement: A mandatory pre-test genetic counseling session with a DHA-licensed genetic counselor and signed informed consent for genetic data processing in full compliance with UAE data protection regulations.
Patient FAQ & Clinical Guidance
1. What is the POLE Gene (FILS Syndrome) Genetic Test and what condition does it diagnose?
This advanced Next-Generation Sequencing test analyzes the entire POLE gene to diagnose FILS syndrome, a rare autosomal recessive genetic disorder characterized by facial dysmorphism, immunodeficiency, livedo reticularis, and short stature. The test detects pathogenic variants across all coding exons and splice sites, providing a definitive molecular diagnosis for affected individuals.
2. How is the sample collected and when will results be available?
A peripheral whole blood draw (approximately 3–5 mL) is performed during a scheduled VIP mobile phlebotomy home visit between 8 AM and 11 PM daily. Alternatively, a dried blood spot on an FTA card may be used. The laboratory processes the specimen using ISO 9001:2015 accredited NGS technology, with results typically delivered within 3 to 4 weeks from sample receipt.
3. Is the test covered by insurance and how is my genetic data protected?
We offer direct insurance billing verification via WhatsApp at +971 54 548 8731; coverage varies by policy. All genetic data is encrypted and stored in UAE sovereign cloud infrastructure, protected under 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. Your genetic information is never shared with third parties without explicit written consent.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance Framework
This diagnostic service operates in full compliance 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 processed and stored within UAE sovereign infrastructure with strict access controls, audit logging, and encryption at rest and in transit. Patient consent for genetic analysis is obtained and documented in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring that every specimen is collected, processed, and reported under legally binding clinical governance standards.
Clinical & Logistical Metadata
| Test Name | POLE Gene (FILS Syndrome) Genetic Test (NGS) |
| Price (AED) | 2800 |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Analysis |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 69548-6 |
| DHA Facility License & Laboratory Address | DHA Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Lab: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians