Understanding Your Infant’s Neurological Health Journey
As a parent, watching your infant experience seizures or developmental delays can be one of the most frightening experiences imaginable. The uncertainty, the worry about what the future holds, and the desperate need for answers – we understand these emotions completely. Our SIK1 Gene Early Infantile Epileptic Encephalopathy Type 30 NGS Genetic DNA Test is designed to provide the clarity and direction you need during this challenging time.
What This Test Detects
This advanced genetic test specifically identifies mutations in the SIK1 gene, which is responsible for Early Infantile Epileptic Encephalopathy Type 30 (EIEE30). This severe form of epilepsy typically begins in the first months of life and can significantly impact an infant’s neurological development. By using Next-Generation Sequencing (NGS) technology, we can detect even the smallest genetic variations with exceptional accuracy, giving you definitive answers about your child’s condition.
Who Should Consider This Test
This test is particularly important for infants showing:
- Early-onset seizures within the first 6 months of life
- Developmental regression or delays
- Abnormal EEG patterns
- Family history of early infantile epilepsy
- Unexplained neurological symptoms
- Multiple seizure types that are difficult to control
If your child has been experiencing any of these symptoms, or if there’s a family history of similar conditions, this test could provide the critical information needed for proper diagnosis and treatment planning.
Why Early Detection Matters for Your Child’s Future
Early diagnosis of EIEE30 can dramatically change your child’s healthcare journey. With accurate genetic information, your medical team can:
- Develop targeted treatment strategies specific to SIK1-related epilepsy
- Avoid ineffective medications and treatments
- Provide accurate prognosis and developmental expectations
- Offer appropriate genetic counselling for family planning
- Connect with specialist care and support networks
Many families report feeling a sense of relief and empowerment once they have a definitive diagnosis, as it allows them to focus on the most effective treatments and support for their child.
Understanding Your Results with Compassion
We know that receiving genetic test results can be emotionally challenging. That’s why we provide comprehensive support throughout the process:
- Clear, easy-to-understand result reports with detailed explanations
- Access to genetic counsellors who specialise in neurological conditions
- Guidance on next steps and available treatment options
- Connections to specialist neurologists in major centres like Johannesburg, Cape Town, and Durban
- Ongoing support for questions and concerns
Transparent Pricing and Value
| Service | Regular Price | Special Price |
|---|---|---|
| SIK1 Gene NGS Test | ZAR 9,350 | ZAR 6,700 |
| Genetic Counselling Session | Included | Included |
| Result Interpretation | Included | Included |
Considering the potential lifetime costs of managing undiagnosed or misdiagnosed epilepsy, this test represents significant long-term value for your family’s health and peace of mind.
Why Trust Oracle Genomics
We’ve built our reputation on providing South African families with:
- Nationwide coverage with collection points in Johannesburg, Cape Town, Durban, Pretoria and other major centres
- Advanced NGS technology ensuring 99.9% accuracy in genetic detection
- Specialised neurological genetic expertise
- 3-4 week turnaround time for results
- Multiple sample options including blood, extracted DNA, or FTA card
- Comprehensive pre-test genetic counselling and pedigree analysis
Take the First Step Toward Answers
Don’t let uncertainty about your infant’s health continue to cause anxiety. Early detection can make a profound difference in treatment outcomes and quality of life. Our team is ready to support you through this journey with compassion, expertise, and the advanced technology needed to provide definitive answers.
Book your consultation today and take the first step toward understanding your child’s neurological health. Call us, visit our website, or schedule an appointment at one of our nationwide locations. Your child’s health journey deserves the clarity that only accurate genetic testing can provide.
