Find Clarity for Your Family’s Neurological Health
When you’re concerned about congenital muscular dystrophy running in your family, the uncertainty can be overwhelming. Our POMT1 Gene Muscular Dystrophy-Dystroglycanopathy Type B1 NGS Genetic DNA Test provides the definitive answers you need to make informed decisions about your family’s health future.
Understanding the POMT1 Genetic Test
This advanced genetic test specifically examines the POMT1 gene for mutations that cause congenital muscular dystrophy-dystroglycanopathy type B1 – a rare but serious condition that affects muscle development and cognitive function from birth. Using Next Generation Sequencing (NGS) technology, we achieve 99.9% accuracy in detecting even the most subtle genetic variations.
The test helps identify whether you or your child carry the genetic mutation responsible for this condition, providing crucial information for treatment planning and family decision-making.
Who Should Consider This Genetic Test?
- Families with a history of congenital muscular dystrophy
- Parents concerned about developmental delays in their children
- Individuals experiencing unexplained muscle weakness from early childhood
- Couples planning pregnancy with family history of neurological disorders
- Children showing signs of both muscle weakness and cognitive challenges
- Families seeking clarity about inherited conditions
If you’ve noticed symptoms like poor muscle tone, delayed motor milestones, or developmental challenges in your child, this test can provide the answers you need.
Why Early Detection Matters for Your Family
Getting tested for POMT1 gene mutations offers life-changing benefits:
- Early Intervention: Identify the condition early to start appropriate therapies and support
- Family Planning: Make informed decisions about future pregnancies
- Treatment Guidance: Help healthcare providers create targeted treatment plans
- Peace of Mind: Reduce uncertainty and anxiety about your family’s health future
- Genetic Counselling: Professional guidance to understand inheritance patterns and risks
Understanding Your Test Results
We know waiting for genetic test results can be stressful. Our team provides clear, compassionate explanations of your results:
- Positive Result: Indicates the presence of POMT1 gene mutation – our genetic counsellors will guide you through next steps and treatment options
- Negative Result: No mutation detected – providing reassurance about your genetic status
- Carrier Status: Information about whether you carry the gene without showing symptoms
Every result comes with professional genetic counselling to ensure you fully understand the implications for your family.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| POMT1 Gene Test with Genetic Counselling | ZAR 6,700 | ZAR 2,650 |
Turnaround Time: 3 to 4 weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Includes: Professional Genetic Counselling Session
Why Trust Oracle Genomics?
- Nationwide Coverage: Available throughout South Africa including Johannesburg, Cape Town, Durban, and Pretoria
- Medical Expertise: Specialised neurological genetic testing supervised by qualified specialists
- Advanced Technology: Next Generation Sequencing for maximum accuracy
- Compassionate Care: We understand the emotional journey of genetic testing
- Professional Support: Genetic counselling included with every test
Take the First Step Toward Clarity
Don’t let uncertainty about genetic conditions control your family’s future. Our POMT1 genetic test provides the answers you need with compassion and professional expertise.
Book Your Test Today:
– Call our genetic counselling team for immediate assistance
– Schedule your sample collection at any of our nationwide locations
– Receive professional support throughout your testing journey
Early detection can make all the difference. Take control of your family’s neurological health today.

