Finding Answers for Your Infant’s Neurological Health
As a parent, watching your infant struggle with unexplained seizures or developmental delays can be heartbreaking and overwhelming. You’re not alone in your search for answers. Our PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 NGS Genetic DNA Test provides the clarity South African families need to understand their child’s condition and make informed healthcare decisions.
Understanding the PNKP Gene Test
This advanced genetic test specifically examines the PNKP gene using Next Generation Sequencing (NGS) technology – the gold standard in genetic testing. The PNKP gene plays a crucial role in DNA repair, and mutations in this gene can lead to Early Infantile Epileptic Encephalopathy Type 10, a severe form of epilepsy that typically appears in the first months of life.
Unlike standard tests, our NGS approach provides comprehensive analysis, ensuring no mutation goes undetected. This level of accuracy is essential for making confident treatment decisions and understanding your child’s prognosis.
Who Should Consider This Test?
This test is particularly important for infants showing:
- Unexplained seizures in the first year of life
- Developmental delays or regression
- Abnormal brain activity detected in EEG tests
- Family history of early-onset epilepsy
- Multiple seizure types that are difficult to control
- Concerns about neurological development milestones
If your child has been diagnosed with epilepsy or shows concerning neurological symptoms, this test can provide the genetic confirmation needed for targeted treatment approaches.
Why Early Detection Matters for Your Child’s Health
Early genetic diagnosis through our PNKP test offers multiple life-changing benefits:
- Accurate Diagnosis: Move beyond symptom management to understand the root cause of your child’s condition
- Personalised Treatment: Guide medication choices and treatment strategies based on genetic findings
- Prognostic Information: Understand what to expect and plan for your child’s future development
- Family Planning Guidance: Understand inheritance patterns for future family planning decisions
- Peace of Mind: Replace uncertainty with clear, actionable information
Early intervention can significantly improve outcomes for children with genetic epileptic conditions.
Understanding Your Test Results
We understand that waiting for genetic test results can be anxiety-provoking. Our process is designed to provide clarity and support:
- Clear Reporting: Results are presented in easy-to-understand language with medical interpretation
- Genetic Counselling: Every test includes professional genetic counselling to help you understand the implications
- Clinical Correlation: Our neurologists correlate genetic findings with your child’s clinical presentation
- Action Plan: Receive specific recommendations for next steps in your child’s care
- Ongoing Support: Access to our medical team for any follow-up questions
Whether the results confirm a diagnosis or rule out PNKP-related conditions, you’ll have the information needed to move forward with confidence.
Affordable Genetic Testing for South African Families
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| PNKP Gene Test | ZAR 6,700 | ZAR 2,650 |
Turnaround Time: 3-4 weeks
Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
Preparation Required: Clinical history and genetic counselling session
Considering the potential lifetime costs of undiagnosed or misdiagnosed epilepsy, this test represents significant long-term value for your family’s health and peace of mind.
Why Trust Oracle Genomics?
- Nationwide Coverage: Accessible testing centres in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Medical Expertise: Tests supervised by qualified neurologists and genetic specialists
- Advanced Technology: State-of-the-art NGS technology for maximum accuracy
- Patient-Centred Care: Empathetic support throughout your testing journey
- Proven Track Record: Trusted by healthcare providers nationwide
Take the First Step Toward Answers Today
Don’t let uncertainty about your infant’s health create unnecessary stress. Early detection through genetic testing can provide the clarity needed to make the best decisions for your child’s care.
Book your PNKP Gene Test now and take advantage of our special pricing of ZAR 6,700. Our genetic counsellors are ready to guide you through the process and answer any questions you may have.
Contact us today to schedule your test at a location convenient for you – whether in Johannesburg, Cape Town, Durban, Pretoria, or anywhere across South Africa.
