Find Answers for Unexplained Neurological Symptoms with TPK1 Gene Testing
When your child shows developmental delays or you experience neurological symptoms without clear cause, the uncertainty can be overwhelming. Our TPK1 Gene Thiamine Metabolism Dysfunction Syndrome Type 5 test provides the clarity you need to understand your genetic health and take control of your treatment journey.
Understanding Your TPK1 Gene Test
The TPK1 gene plays a crucial role in how your body processes thiamine (vitamin B1), which is essential for proper brain and nerve function. When this gene has mutations, it can lead to thiamine metabolism dysfunction syndrome type 5 – a rare genetic disorder that affects neurological development and function.
Our advanced Next-Generation Sequencing (NGS) technology examines your TPK1 gene with exceptional precision, identifying even the smallest genetic variations that could be impacting your health.
Who Should Consider This Genetic Test?
This test is particularly important if you or your child experience:
- Unexplained developmental delays in infancy or childhood
- Progressive neurological symptoms that worsen over time
- Family history of thiamine metabolism disorders
- Unexplained seizures or movement disorders
- Diagnostic uncertainty despite multiple medical evaluations
- Planning for pregnancy with family history of genetic disorders
Early detection through genetic testing can lead to targeted treatments that may significantly improve outcomes.
Why Early Detection Matters for Your Health
Getting a definitive diagnosis through TPK1 gene testing offers life-changing benefits:
- Personalised Treatment: Specific thiamine supplementation can dramatically improve symptoms
- Family Planning: Understand inheritance patterns for future generations
- Peace of Mind: End the diagnostic odyssey and uncertainty
- Prevent Complications: Early intervention can prevent progressive neurological damage
- Accurate Prognosis: Understand what to expect and plan accordingly
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 presented in easy-to-understand language with medical interpretation
- Genetic Counselling: Included session to explain results and next steps
- Medical Guidance: Recommendations for appropriate specialists and treatments
- Family Implications: Discussion about what results mean for relatives
- Ongoing Support: Access to our genetic counselling team for follow-up questions
Whether your results show a mutation or provide reassuring information, you’ll have the guidance needed to make informed health decisions.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| TPK1 Gene Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
| Genetic Counselling Session | Included at no extra cost | ||
| Family Pedigree Analysis | Included in comprehensive service | ||
Consider the long-term value: Early diagnosis can prevent years of unnecessary medical expenses and improve quality of life significantly.
Why Trust Oracle Genomics?
- Nationwide Coverage: Testing centres in Johannesburg, Cape Town, Durban, Pretoria and nationwide
- Medical Expertise: Tests supervised by qualified genetic specialists
- 99.9% Accuracy: Advanced NGS technology ensures reliable results
- Quick Turnaround: Results in 3-4 weeks from sample receipt
- Multiple Sample Options: Blood, extracted DNA, or simple blood spot on FTA card
- Complete Confidentiality: Your genetic information is protected with strict privacy protocols
Take the First Step Toward Clarity Today
Don’t let uncertainty about your genetic health continue. Our TPK1 gene test provides the answers you need to make informed decisions about your health and future.
Limited Time Special: Save ZAR 2,650 on our comprehensive TPK1 gene testing package. Early detection could make all the difference in managing thiamine metabolism disorders effectively.
Next Available Slot: Book now for testing within the next 7 days at centres across South Africa.
