Understanding Your Child’s Genetic Health: LAMA1 Gene Testing for Poretti-Boltshauser Syndrome
As a parent, nothing matters more than your child’s health and development. When you notice unusual symptoms or have family history of neurological conditions, the uncertainty can be overwhelming. Our LAMA1 Gene Poretti-Boltshauser Syndrome NGS Genetic DNA Test provides the answers you need with the compassion you deserve. For families across South Africa, this advanced genetic screening offers clarity, early detection, and a pathway to better healthcare planning.
What This Test Detects: Your Path to Clarity
The LAMA1 gene plays a crucial role in brain development, specifically in the cerebellum – the part of the brain responsible for coordination and movement. When mutations occur in this gene, they can lead to Poretti-Boltshauser syndrome, a condition characterized by cerebellar abnormalities, developmental delays, and eye movement disorders. Our Next Generation Sequencing technology examines every aspect of the LAMA1 gene with exceptional accuracy, providing you with definitive results you can trust.
Is This Test Right for Your Family?
This test is particularly important if your child shows:
- Delayed motor development or coordination difficulties
- Abnormal eye movements or vision problems
- Balance issues or unsteady walking
- Speech and language delays
- Family history of cerebellar abnormalities
- Previous siblings with similar neurological symptoms
Even without obvious symptoms, families with known genetic conditions may benefit from proactive testing to understand their genetic health patterns.
Why Early Detection Matters for Your Child’s Future
Early identification of Poretti-Boltshauser syndrome through LAMA1 gene testing provides numerous life-changing benefits:
- Early Intervention: Access to targeted therapies and support services when they’re most effective
- Educational Planning: Tailored learning approaches that accommodate your child’s specific needs
- Family Planning: Understanding inheritance patterns for future family decisions
- Peace of Mind: Replacing uncertainty with clear, actionable information
- Medical Management: Coordinated care with specialists who understand the condition
Understanding Your Results: We’re Here to Guide You
Receiving genetic test results can feel daunting, but you won’t face this journey alone. Every test includes comprehensive genetic counselling where our specialists will:
- Explain your results in clear, understandable language
- Create a detailed family pedigree to understand inheritance patterns
- Discuss what the results mean for your child’s health and development
- Connect you with appropriate medical specialists and support resources
- Provide ongoing guidance for managing your child’s healthcare needs
Our team ensures you leave with not just results, but with understanding and a clear path forward.
Transparent Pricing: Investing in Your Child’s Health
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| LAMA1 Gene Poretti-Boltshauser Syndrome NGS Test | R6,700 | R2,650 OFF |
Test Details:
- Turnaround Time: 3-4 weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Preparation: Clinical history and genetic counselling session included
- Method: Next Generation Sequencing (NGS) Technology
Why South African Families Trust Oracle Genomics
With testing centres across major cities including Johannesburg, Cape Town, Durban, and Pretoria, we bring world-class genetic testing to your doorstep. Our commitment includes:
- Nationwide Coverage: Accessible testing across South Africa
- Medical Expertise: Specialists in pediatric genetics and neurological conditions
- Accuracy Guarantee: Advanced NGS technology for reliable results
- Patient-Centred Care: Compassionate support throughout your journey
- Comprehensive Counselling: Helping you understand and act on your results
Take the First Step Toward Clarity Today
Don’t let uncertainty about your child’s health create unnecessary stress. With our special pricing of R6,700 (saving you R2,650), there’s never been a better time to gain the clarity you deserve.
Limited Time Offer: This special pricing of R6,700 won’t last forever. Secure your child’s genetic health assessment today and take control of your family’s healthcare journey with confidence and professional support.

