Find Clarity About Refsum Disease Genetic Risks
When unexplained symptoms like vision changes, muscle weakness, or balance issues affect your daily life, it’s natural to feel concerned and uncertain. Our PEX7 Gene Refsum Disease NGS Genetic DNA Test provides the definitive answers you need to understand your genetic health and take proactive steps toward better management.
Understanding the PEX7 Gene Refsum Disease Test
Refsum disease is a rare genetic condition that affects your body’s ability to break down phytanic acid, leading to its accumulation and causing progressive neurological and vision problems. Our advanced Next-Generation Sequencing (NGS) technology examines the PEX7 gene with exceptional accuracy, identifying mutations that could be responsible for your symptoms.
This isn’t just another test – it’s a comprehensive genetic investigation that includes professional genetic counselling to help you understand your results in the context of your family history and personal health journey.
Who Should Consider This Test?
This test is particularly important if you’re experiencing:
- Progressive vision loss or night blindness
- Muscle weakness or coordination difficulties
- Balance problems or unsteady gait
- Hearing loss that’s gradually worsening
- Dry, scaly skin (ichthyosis)
- Family history of similar neurological symptoms
- Unexplained childhood-onset symptoms that persist into adulthood
If these symptoms sound familiar, or if you have relatives with diagnosed Refsum disease, this test can provide the clarity needed for proper diagnosis and management.
Why Early Detection Matters for Your Health
Getting tested for PEX7 gene mutations offers significant health advantages:
- Prevent Progressive Damage: Early diagnosis allows for dietary management that can slow or prevent further neurological damage
- Clarity and Peace of Mind: End the uncertainty about your symptoms and receive a definitive answer
- Family Planning Guidance: Understand inheritance patterns to make informed decisions about family planning
- Personalised Treatment: Work with your healthcare provider to develop a targeted management plan
- Cost Savings: Early intervention can prevent expensive emergency care and hospitalisations
Understanding Your Test Results
We know waiting for genetic test results can be anxiety-provoking. Our process is designed to provide clarity and support:
Positive Result: If mutations are found, our genetic counsellor will explain what this means for your health, discuss management options, and help you understand inheritance patterns. Early dietary intervention can significantly improve quality of life.
Negative Result: If no PEX7 mutations are detected, this provides valuable information that your symptoms may have other causes, allowing you and your doctor to explore alternative diagnoses.
Uncertain Variants: Sometimes we find genetic changes of unknown significance. Our team will explain these findings and recommend appropriate follow-up testing or monitoring.
Transparent Pricing & Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| PEX7 Gene Refsum Disease NGS Test | ZAR 6,700 | ZAR 2,650 | |
| Genetic Counselling Session | Included at no extra cost | ||
| Family Pedigree Analysis | Included at no extra cost | ||
Consider the long-term value: Early detection can prevent thousands in future medical costs and preserve your quality of life.
Why Trust Oracle Genomics?
- Nationwide Coverage: Convenient testing available in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Advanced Technology: State-of-the-art NGS testing for maximum accuracy
- Professional Expertise: Our genetic counsellors and medical team provide comprehensive support
- Multiple Sample Options: Choose from blood draw, extracted DNA, or simple FTA card testing
- Proven Track Record: Trusted by healthcare providers nationwide
- Clear Timeline: Results delivered within 3-4 weeks with ongoing support
Take the First Step Toward Genetic Clarity
Don’t let uncertainty about your symptoms control your life. With our special pricing of ZAR 6,700 (saving you ZAR 2,650), there’s never been a better time to get the answers you deserve.
Limited Time Offer: This special pricing won’t last forever. Secure your test today and take control of your genetic health journey.
Convenient Nationwide Access: Whether you’re in Johannesburg, Cape Town, Durban, or anywhere in South Africa, we make genetic testing accessible and straightforward.
