Understanding POLR3B Gene Leukodystrophy: Your Path to Clarity
When neurological symptoms appear or there’s a family history of leukodystrophy, the uncertainty can be overwhelming. We understand the deep concern that comes with watching a loved one experience developmental delays, movement difficulties, or other neurological challenges. Our POLR3B Gene Leukodystrophy Hypomyelinating Type 8 test is designed to provide the answers you need with compassion and scientific precision.
What This Test Detects
This advanced genetic test specifically examines the POLR3B gene for mutations that cause hypomyelinating leukodystrophy type 8. This rare condition affects the brain’s white matter development, particularly the myelin sheath that protects nerve cells. Using Next-Generation Sequencing (NGS) technology, we can identify even the most subtle genetic variations with exceptional accuracy.
Who Should Consider This Test
This test is particularly important if you or your child experience:
- Unexplained developmental delays in motor skills or speech
- Progressive neurological symptoms without clear diagnosis
- Family history of leukodystrophy or similar neurological conditions
- Abnormal brain MRI findings suggesting white matter abnormalities
- Movement disorders or coordination difficulties
Why Early Detection Matters for Your Health
Receiving a definitive diagnosis can be life-changing. Knowing whether POLR3B mutations are present helps:
- Guide appropriate medical management and treatment planning
- Provide clarity for family planning decisions
- Connect with specialised neurological care
- Access support services and resources
- Reduce the stress of diagnostic uncertainty
Understanding Your Results with Confidence
We know that waiting for genetic test results can be anxiety-provoking. That’s why we provide:
- Clear, easy-to-understand result reports
- Access to genetic counselling to discuss your results
- Guidance on next steps based on your specific situation
- Support in communicating results to your healthcare team
Transparent Pricing and Value
| Service | Regular Price | Special Price |
|---|---|---|
| POLR3B Gene Test | ZAR 9,350 | ZAR 6,700 |
| Genetic Counselling Session | Included | |
| Result Interpretation | Included | |
Considering the potential impact on long-term healthcare decisions and quality of life, this test represents significant value in understanding your genetic health.
Nationwide Access and Trust
Oracle Genomics brings advanced genetic testing to communities across South Africa. With sample collection available in Johannesburg, Cape Town, Durban, Pretoria and nationwide, you can access world-class genetic testing without traveling far from home. Our partnership with leading neurologists ensures your results are clinically relevant and actionable.
Take the Next Step Toward Answers
Don’t let uncertainty about neurological symptoms continue to cause worry. Our team is ready to support you through this important health journey. With genetic counselling included and results in 3-4 weeks, you can move forward with confidence.
Book your test today and take the first step toward understanding your genetic health. Call our genetic counsellors or visit our website to schedule your appointment.
