Understanding PEX5 Gene Peroxisome Biogenesis Disorder Type 2B
When your child shows developmental delays or unusual symptoms, the uncertainty can be overwhelming. PEX5 Gene Peroxisome Biogenesis Disorder Type 2B is a rare genetic condition that affects how cells process fats and other substances, potentially leading to serious neurological and developmental challenges. As South African parents, you deserve clear answers and a path forward for your child’s health journey.
What This Test Detects
Our advanced NGS (Next-Generation Sequencing) technology examines the PEX5 gene for mutations that disrupt peroxisome function. Peroxisomes are essential cellular components that break down toxic substances and synthesize important compounds. When the PEX5 gene isn’t working properly, it can lead to the accumulation of harmful substances that affect brain development, vision, and overall growth.
Who Should Consider This Test
This test is particularly important for families noticing:
- Unexplained developmental delays in infants or young children
- Vision problems or hearing loss without clear cause
- Abnormal muscle tone or coordination difficulties
- Family history of similar neurological conditions
- Multiple affected siblings with progressive symptoms
Why Early Detection Matters for Your Family
Getting a definitive diagnosis through our PEX5 gene test provides several crucial benefits:
- Treatment Guidance: Knowing the specific genetic cause helps doctors develop targeted management strategies
- Family Planning: Understand inheritance patterns for future family decisions
- Peace of Mind: End the diagnostic odyssey and uncertainty about your child’s condition
- Early Intervention: Access appropriate therapies and support services sooner
Understanding Your Results
Our comprehensive approach includes genetic counselling to help you understand what your results mean. We’ll explain:
- Whether a PEX5 gene mutation was detected
- How this affects your child’s health and development
- What management options and support services are available
- Implications for other family members
Pricing and Value
| Regular Price | ZAR 9,350 |
| Special Price | ZAR 6,700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card |
Considering the potential lifetime costs of undiagnosed genetic conditions, this test represents significant value in providing clarity and direction for your family’s health journey.
Nationwide Coverage and Trust
Oracle Genomics serves families across South Africa, with convenient testing locations in Johannesburg, Cape Town, Durban, and Pretoria. Our neurological genetics specialists use state-of-the-art NGS technology to ensure the highest accuracy in genetic testing.
Take Action for Your Family’s Health
Don’t let uncertainty about your child’s development continue. Early detection through our PEX5 gene test can provide the answers you need to make informed decisions about treatment and care. Our genetic counselling session will help you understand your family’s genetic picture and create a personalized approach to managing this condition.
Book your genetic counselling and testing today to take the first step toward clarity and peace of mind for your family’s health future.
