Find Answers for Unexplained Neurological and Muscular Symptoms
When your child experiences developmental delays, muscle weakness, or unexplained fatigue, the search for answers can feel overwhelming. The PNPT1 Gene Test provides the clarity you need to understand Combined Oxidative Phosphorylation Deficiency Type 13 – a rare mitochondrial disorder that affects energy production in cells. Our compassionate testing approach combines advanced genetic technology with professional support to guide your family toward better health management.
Understanding the PNPT1 Gene Test
This specialised genetic test examines your PNPT1 gene using Next Generation Sequencing (NGS) technology to identify mutations that disrupt mitochondrial function. Mitochondria are the powerhouses of your cells, and when they don’t work properly due to PNPT1 gene variations, it can lead to serious neurological and muscular complications. Our test provides precise analysis that helps doctors understand the root cause of complex symptoms.
Who Should Consider This Test?
This test is particularly important if you or your child experience:
- Unexplained muscle weakness or fatigue
- Developmental delays in childhood
- Neurological symptoms without clear diagnosis
- Family history of mitochondrial disorders
- Multiple unexplained medical symptoms affecting different body systems
- Previous negative results from standard medical tests
Early testing can provide crucial information for managing symptoms and planning appropriate care.
Why Early Detection Matters for Your Health
Identifying PNPT1 gene mutations early offers significant benefits:
- Accurate Diagnosis: Move from uncertainty to clear understanding of your condition
- Personalised Treatment: Guide doctors toward appropriate management strategies
- Family Planning: Understand inheritance patterns for future family decisions
- Peace of Mind: Reduce the stress of unexplained symptoms
- Proactive Health Management: Implement targeted interventions before symptoms worsen
Understanding Your Test Results
Our comprehensive genetic counselling session helps you understand your results in clear, compassionate terms. We explain:
- What specific PNPT1 gene variations mean for your health
- How results impact current symptoms and future risks
- Management strategies tailored to your genetic profile
- Family implications and testing recommendations for relatives
You’ll receive support every step of the way, ensuring you feel confident about your next health decisions.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| PNPT1 Gene Test with Genetic Counselling | ZAR 6,700 | ZAR 2,650 |
Includes comprehensive genetic analysis, detailed report, and professional genetic counselling session
Why Trust Oracle Genomics?
- Nationwide Coverage: Available in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Advanced Technology: State-of-the-art NGS testing for maximum accuracy
- Expert Team: Qualified genetic counsellors and medical professionals
- Multiple Sample Options: Blood, extracted DNA, or simple FTA card collection
- Reliable Turnaround: Results within 3-4 weeks with ongoing support
Take the First Step Toward Clarity
Don’t let uncertainty about neurological or muscular symptoms continue affecting your quality of life. Our PNPT1 Gene Test provides the answers you need to move forward with confidence.
Limited Time Offer: Save ZAR 2,650 on comprehensive genetic testing with included counselling session.
Test Preparation Requirements
Before your test, please provide:
- Complete clinical history of the patient
- Participation in genetic counselling session to create family pedigree chart
- Information about affected family members
Our team will guide you through every preparation step to ensure accurate results.
