Test Price
2,800 AED✅ Home Collection Available
PAX6 Gene Coloboma of the Optic Nerve Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity
ISO-certified next-generation sequencing at our dedicated genetics facility, validated per international molecular diagnostic guidelines.
VIP Mobile Phlebotomy
Temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM for standard peripheral blood or saliva samples.
Post-Test Genetic Counseling
Telephonic result interpretation by a DHA-licensed consultant medical geneticist, ensuring clarity on variant classification and family implications.
Insurance Verification
Direct billing support via WhatsApp +971 54 548 8731 – we coordinate with all major UAE health networks.
Test Overview & Methodology
The PAX6 gene coloboma of the optic nerve NGS test analyzes the entire coding sequence and splice junctions of the PAX6 gene using next-generation sequencing to detect pathogenic variants associated with congenital optic nerve coloboma. This molecular analysis provides a definitive etiological diagnosis, enabling precise ophthalmologic management, surveillance planning, and informed genetic counseling for affected families. Copy-number variant (CNV) detection is included to identify large exon-level deletions or duplications not captured by standard sequencing.
| Feature | Our NGS-Based Test | Conventional Sanger Sequencing |
|---|---|---|
| Analytical Sensitivity | >99.9% across all coding exons and splice sites | Limited to single-exon analysis; lower sensitivity for mosaic variants |
| Variant Types Detected | SNVs, indels, and CNVs (exon-level deletions/duplications) | SNVs only; large rearrangements routinely missed |
| Turnaround Time | 3–4 weeks with secure electronic report | 6–8 weeks; paper-based reporting |
Physician Insight & Safety Protocols
“A molecular diagnosis of a PAX6 pathogenic variant provides a definitive explanation for congenital optic nerve coloboma and can guide surveillance for associated systemic features. However, a negative result does not exclude all genetic etiologies; comprehensive clinical evaluation and imaging remain essential. This test empowers families with accurate recurrence risk information and enables targeted early intervention strategies.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Guidelines
- Pre-test genetic counseling with a detailed three-generation pedigree is mandatory before sample collection.
- Do not alter or discontinue any prescribed ophthalmologic or systemic therapy without consulting your specialist.
- Inform the laboratory if you have received a solid organ or bone marrow transplant, as donor-derived DNA may interfere with sequencing.
Exclusion Criteria & Emergency Red Flags
- This test is not indicated for minors unless accompanied by legally valid guardian consent in accordance with UAE Federal Law.
- This test is not a substitute for emergency medical care. If you experience sudden vision loss, severe ocular pain, or acute orbital trauma, proceed immediately to the nearest hospital emergency department.
- Samples from individuals who have received allogeneic hematopoietic stem cell transplantation may yield inconclusive results due to donor chimerism.
Patient FAQ & Clinical Guidance
1. What does the PAX6 coloboma NGS test detect, and how accurate is it?
This test identifies pathogenic sequence variants and copy-number alterations across the entire PAX6 gene with greater than 99.9% analytical sensitivity. It provides a definitive molecular diagnosis for congenital optic nerve coloboma, guiding both clinical management and family counseling. All variants are classified per ACMG/AMP standards.
2. What sample types are accepted, and is fasting required?
Peripheral whole blood collected in an EDTA tube, saliva collected on an FTA card, or purified genomic DNA are all acceptable. No fasting is required. Samples are transported via temperature-controlled cold-chain logistics to our ISO-certified laboratory. VIP mobile phlebotomy is available daily from 8 AM to 11 PM.
3. How long do results take, and will a specialist explain them?
Results are delivered within 3 to 4 weeks via a secure online portal. A DHA-licensed consultant medical geneticist will schedule a telephonic session to review the findings, discuss variant implications for family members, and provide personalized surveillance recommendations at no additional cost.
4. Can this test detect all genetic causes of optic nerve coloboma?
No. This test is specific to the PAX6 gene. Optic nerve coloboma can also arise from variants in other genes (e.g., SOX2, OTX2) or from non-genetic environmental exposures. A negative PAX6 result does not rule out all causes; your genetic counselor may recommend broader panel testing or whole-exome sequencing if clinically indicated.
UAE Regulatory & Data Privacy Adherence
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 encrypted, access-restricted, and processed exclusively within UAE jurisdictions. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 certification and is licensed by the Dubai Health Authority (DHA Facility License No. 1143).
Clinical & Logistical Metadata
| Test Name | PAX6 Gene Coloboma of the Optic Nerve NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Saliva (FTA Card), or Extracted Genomic DNA |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV Analysis |
| ICD-10-CM Code | Q14.2, H47.31 |
| LOINC Code | 94495-7 |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Operated by DNA Labs UAE. |
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All reports reviewed by DHA-Certified physicians