Understanding Your Eye Health: POLG2 Gene Testing for Progressive External Ophthalmoplegia
When your eyes don’t move as they should, or your eyelids feel heavy and droop, it can be frightening and isolating. These symptoms might indicate progressive external ophthalmoplegia (PEO), a condition that affects how your eyes move and function. At Oracle Genomics, we understand the anxiety that comes with unexplained eye symptoms, and we’re here to provide the clarity you need through advanced genetic testing.
What Does the POLG2 Gene Test Detect?
This specialised test examines your POLG2 gene, which plays a crucial role in mitochondrial function. When this gene has specific changes (mutations), it can lead to progressive external ophthalmoplegia with mitochondrial deletions type 4. Think of mitochondria as the powerhouses of your cells – when they don’t work properly, it affects tissues that need lots of energy, like your eye muscles.
Our test uses Next Generation Sequencing (NGS) technology, the most advanced method available, to carefully analyse your DNA for these specific genetic changes. This isn’t just a simple blood test; it’s a comprehensive genetic investigation that provides definitive answers about your condition.
Who Should Consider This Genetic Test?
This test is particularly important if you experience:
- Gradually worsening difficulty moving your eyes
- Drooping eyelids (ptosis) that seems to be getting worse over time
- Family members with similar eye movement problems
- Unexplained muscle weakness around your eyes
- A diagnosis of mitochondrial disorder in your family
Many South Africans with these symptoms spend years searching for answers. Our test can provide the genetic confirmation needed to stop the diagnostic journey and start focused management.
Why Early Detection Matters for Your Health
Getting a definitive genetic diagnosis brings multiple benefits:
- Peace of Mind: End the uncertainty about what’s causing your symptoms
- Family Planning: Understand the inheritance pattern for future generations
- Targeted Management: Work with your neurologist on specific treatment approaches
- Early Intervention: Address symptoms before they significantly impact daily life
- Genetic Counselling: Make informed decisions with professional guidance
Knowing your genetic status empowers you to take proactive steps in managing your eye health and overall wellbeing.
Understanding Your Test Results
We know waiting for genetic results can be stressful. Here’s what to expect:
Positive Result: This means we found a mutation in your POLG2 gene. While this confirms the genetic cause of your symptoms, it also provides the clarity needed to work with specialists on managing your condition effectively.
Negative Result: No POLG2 gene mutation was detected. This helps narrow down potential causes and directs further investigation toward other possibilities.
Uncertain Result: Sometimes we find genetic changes whose significance isn’t fully understood. In these cases, our genetic counsellors will explain what this means and discuss next steps.
Regardless of your result, you’ll receive comprehensive support and guidance from our team of genetic specialists.
Transparent Pricing for South African Patients
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| POLG2 Gene Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
Turnaround Time: 3-4 weeks
Sample Required: Blood, Extracted DNA, or One drop Blood on FTA Card
Preparation: Clinical history and genetic counselling session to create family pedigree
Considering the cost of ongoing specialist visits and uncertain diagnoses, this one-time investment in genetic clarity represents excellent value for your long-term health management.
Why Trust Oracle Genomics?
Nationwide Coverage: We serve patients across South Africa, with convenient testing options in Johannesburg, Cape Town, Durban, Pretoria, and throughout the country.
Expert Collaboration: Our tests are specifically designed for neurologists and genetic specialists, ensuring clinical relevance and accuracy.
Advanced Technology: We use NGS technology, the gold standard in genetic testing, providing results you can trust.
Patient-Centred Care: From genetic counselling to result explanation, we support you through every step of your testing journey.
Take the First Step Toward Genetic Clarity
Don’t let uncertainty about your eye health continue to cause anxiety. With our special pricing of ZAR 6,700, now is the perfect time to get the answers you deserve.
Book Your Test Today: Contact your neurologist to discuss this testing option, or reach out to our team for guidance on next steps.
Convenient Nationwide Access: Whether you’re in Johannesburg, Cape Town, Durban, or anywhere in South Africa, we make genetic testing accessible and straightforward.
Your journey to understanding your genetic health starts with one decision. Make that decision today and take control of your eye health future.
