Find Answers for Unexplained Developmental Concerns
When your child shows developmental delays, neurological symptoms, or unexplained health challenges, the uncertainty can be overwhelming. The PMM2 Gene Glycosylation Disorder Type 1A test provides the clarity you need to understand these complex conditions and make informed decisions about your family’s health future.
Understanding Your PMM2 Genetic Test
This advanced genetic test examines the PMM2 gene using Next-Generation Sequencing (NGS) technology to identify mutations that cause Congenital Disorders of Glycosylation Type 1A. Glycosylation is a crucial biological process where sugar molecules attach to proteins, and when this process fails due to PMM2 gene mutations, it can lead to serious multi-system health issues affecting development, neurological function, and overall health.
Our test provides comprehensive analysis with 99.9% accuracy, giving you reliable results you can trust for making critical healthcare decisions.
Who Should Consider This Genetic Test?
This test is particularly important if your child or family member shows:
- Unexplained developmental delays in infancy or childhood
- Neurological symptoms including seizures or abnormal eye movements
- Failure to thrive despite adequate nutrition
- Liver dysfunction or abnormal blood clotting
- Family history of similar symptoms or diagnosed glycosylation disorders
- Multiple unexplained health issues affecting different body systems
Early detection through genetic testing can significantly improve management strategies and quality of life outcomes.
Why Early Detection Matters for Your Family’s Health
Getting a definitive diagnosis through PMM2 gene testing provides numerous life-changing benefits:
- Personalised Treatment Plans: Accurate diagnosis enables targeted interventions and management strategies
- Family Planning Insights: Understand inheritance patterns for future family planning decisions
- Reduced Diagnostic Odyssey: Avoid years of uncertainty and multiple specialist visits
- Improved Quality of Life: Early intervention can significantly enhance developmental outcomes
- Peace of Mind: Replace uncertainty with clear understanding and actionable information
Understanding Your Test Results
We make understanding your genetic results straightforward and supportive:
- Clear Interpretation: Our genetic counsellors explain results in simple, understandable language
- Comprehensive Reporting: Detailed report including clinical significance of any findings
- Genetic Counselling Session: Included with your test to discuss results and next steps
- Family Implications: Guidance on what results mean for other family members
- Medical Referrals: Connection to appropriate specialists if needed
Remember: A positive result provides the clarity needed for proper management, while a negative result can bring significant relief and rule out this specific condition.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| PMM2 Gene Glycosylation Disorder Type 1A Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
Your investment includes: Comprehensive genetic analysis, genetic counselling session, detailed results report, and ongoing support. Compared to the cost of multiple specialist visits and delayed diagnosis, this test represents exceptional value for your family’s health.
Why Trust Oracle Genomics?
- Nationwide Coverage: Available across South Africa including Johannesburg, Cape Town, Durban, and Pretoria
- Advanced Technology: Next-Generation Sequencing ensures highest accuracy
- Expert Team: Qualified genetic counsellors and medical professionals
- Proven Track Record: Thousands of successful genetic tests completed
- Patient-Centred Care: Empathetic support throughout your journey
- Rapid Turnaround: Results within 3-4 weeks
Test Preparation & Process
Sample Collection: Simple blood draw, extracted DNA, or one drop of blood on FTA card
Preparation Required: Clinical history documentation and genetic counselling session to create family pedigree chart
Turnaround Time: 3-4 weeks from sample receipt
Methodology: Next-Generation Sequencing (NGS) Technology
Take the First Step Toward Clarity Today
Don’t let uncertainty about developmental or neurological symptoms continue to worry you. Early detection through genetic testing can provide the answers you need to move forward with confidence.
Book your PMM2 Gene Test now and receive:
- Special pricing of only ZAR 6,700 (save ZAR 2,650)
- Comprehensive genetic counselling included
- Nationwide accessibility across South Africa
- Rapid 3-4 week results turnaround
- Peace of mind and clear health direction
Limited appointments available at special pricing – secure your spot today
