Understanding PAX6 Gene Coloboma: Your Path to Clear Answers
If you or your loved ones are experiencing vision concerns or have a family history of eye conditions, you’re not alone. Many South African families face uncertainty when it comes to inherited eye disorders. Our PAX6 Gene Coloboma NGS Genetic DNA Test provides the clarity and peace of mind you deserve, helping you make informed decisions about your eye health and family planning.
What Does This Test Detect?
The PAX6 gene plays a critical role in eye development during pregnancy. When mutations occur in this gene, it can lead to coloboma – a gap or hole in one of the structures of the eye, particularly the optic nerve. Our advanced Next Generation Sequencing (NGS) technology carefully examines your DNA to identify any abnormalities in the PAX6 gene that could be affecting your vision or putting your family at risk.
Who Should Consider This Test?
This test is particularly important if you or your family members experience:
- Unexplained vision loss or impairment from birth
- Family history of coloboma or other eye abnormalities
- Multiple family members with vision problems
- Planning for pregnancy with concerns about inherited eye conditions
- Children showing signs of developmental eye issues
Early detection can make a significant difference in managing symptoms and preventing further vision deterioration.
Why This Matters for Your Health
Understanding your genetic makeup provides powerful advantages:
- Early Intervention: Detect potential issues before they cause significant vision loss
- Family Planning: Make informed decisions about having children
- Personalised Care: Guide your ophthalmologist in creating the most effective treatment plan
- Peace of Mind: Eliminate uncertainty about your genetic risk factors
- Preventative Measures: Implement strategies to protect your remaining vision
Understanding Your Results
We know waiting for genetic test results can be anxiety-provoking. That’s why we provide comprehensive support throughout the process. Your results will clearly indicate whether a PAX6 gene mutation was detected, and our genetic counselling team will help you understand exactly what this means for your health and your family. We explain everything in simple, understandable terms and connect you with the right specialists for ongoing care.
Transparent Pricing – No Hidden Costs
| Service | Regular Price | Special Price |
|---|---|---|
| PAX6 Gene Coloboma NGS Test | ZAR 6,700 | |
| Genetic Counselling Session | Included | |
| Family Pedigree Analysis | Included | |
| Results Interpretation | Included | |
This represents significant savings compared to the potential costs of untreated vision conditions and provides invaluable health insights.
Why Trust Oracle Genomics?
- Nationwide Coverage: Available across South Africa including Johannesburg, Cape Town, Durban, and Pretoria
- Advanced Technology: Using cutting-edge NGS technology for maximum accuracy
- Expert Team: Working with qualified ophthalmologists and genetic counsellors
- Proven Track Record: Trusted by South African families for accurate genetic testing
- Comprehensive Support: From initial consultation through to results explanation
Test Information
- Turnaround Time: 3 to 4 weeks
- Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
- Preparation Required: Clinical history and genetic counselling session
- Specialty: Ophthalmology
- Method: Next Generation Sequencing (NGS) Technology
Take the First Step Toward Clarity
Don’t let uncertainty about your eye health create unnecessary stress. Early detection through genetic testing can provide the answers you need to protect your vision and make informed health decisions.
Limited Time Offer: Book your test this month and save ZAR 2,650 off the regular price. Your vision health is priceless – take action today.

