Test Price
2,800 AED✅ Home Collection Available
PAX6 Gene Coloboma (Ocular, Autosomal Dominant) Genetic Test in UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified 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 & Result Interpretation.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PAX6 gene NGS test identifies pathogenic variants responsible for ocular coloboma, a congenital eye malformation inherited in an autosomal dominant manner. Comprehensive analysis of the PAX6 coding regions and splice sites enables accurate molecular diagnosis, informs prognosis, and supports family risk assessment through genetic counseling.
A mandatory pre-test genetic counseling session is conducted to construct a three-generation pedigree of family members affected by PAX6-related coloboma. Accepted sample types include whole blood, extracted DNA, or FTA card. Clinical history of the proband must be provided prior to analysis. Ocular fluid specimens may be accepted only after ophthalmologist clearance.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) – full gene coverage | Sanger sequencing of single exons |
| Analytical Sensitivity | >99.9% for single nucleotide variants & small indels | ~95% – limited to pre-selected regions |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks |
| Clinical Utility | Comprehensive variant detection, CNV analysis possible | Point mutations only; high risk of missing deep intronic variants |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) notes: "In my clinical experience, thorough PAX6 gene analysis empowers families with definitive information about inheritance patterns and enables proactive ophthalmologic surveillance across generations. This molecular test should always be interpreted alongside a complete ocular examination and post-test genetic counseling to ensure informed clinical decision-making."
🚫 Medication Advisory
Do not alter, pause, or discontinue any prescribed eye medications or systemic therapies without explicit guidance from your supervising physician. Genetic test results serve as a diagnostic adjunct and do not replace ongoing clinical management or established treatment plans.
🔴 Patient Safety Exclusion Criteria
- Unsuitable for minors without court-approved legal guardian consent in alignment with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Acute ocular infection or trauma requires urgent ophthalmic assessment and management, not elective genetic testing.
- Known non-genetic coloboma secondary to teratogen exposure necessitates thorough clinical correlation before testing.
🚨 Emergency Red Flags – Seek immediate emergency care if you experience: sudden vision loss, severe eye pain, or signs suggestive of acute glaucoma following sample collection.
Patient FAQ & Clinical Guidance
1. What does a positive PAX6 genetic test indicate for eye health management?
A positive result confirms an inherited predisposition to ocular coloboma, enabling early monitoring for complications such as retinal detachment, cataract formation, or glaucoma. Regular ophthalmologic follow-up and family cascade screening are recommended for all confirmed carriers.
2. What are the UAE legal requirements for genetic testing in minors?
Genetic testing for minors requires full parental consent accompanied by a court-approved legal guardianship document where applicable. All procedures must adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability and the data protection provisions under Federal Decree-Law No. 45 of 2021 (PDPL). Pre-test genetic counseling is mandatory for families.
3. How is my genetic data secured and protected under UAE law?
All genomic data is encrypted, access-restricted, and processed exclusively within UAE jurisdiction 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. Data is never shared with third parties without explicit patient consent.
4. What sample types are accepted for PAX6 genetic analysis?
Standard peripheral whole blood, extracted DNA, or FTA card specimens are accepted. VIP Mobile Phlebotomy is available for home collection under cold-chain conditions. Ocular fluid specimens require prior ophthalmologist clearance and must be collected within a hospital setting.
UAE Regulatory & Data Privacy Adherence
Data Privacy Framework: All personal and genomic data is handled in strict accordance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring encryption, access control, and lawful processing.
Health Information Governance: Compliance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields governs the secure handling of electronic health records and diagnostic data.
Clinical Safety & Consent: All diagnostic procedures and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient safety and clinical accountability.
Laboratory Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) – DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | PAX6 Gene Coloboma (Ocular, Autosomal Dominant) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Coverage |
| ICD-10-CM Code | Q13.0, Q14.2, Q14.8 |
| LOINC Code | 77643-4 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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