Find Clarity About Congenital Muscular Dystrophy with Brain and Eye Anomalies
We understand the overwhelming concern when your child shows signs of developmental challenges. The POMGNT1 gene test provides the definitive answers South African families need to understand this rare genetic condition affecting muscle development, brain structure and vision.
Understanding Your POMGNT1 Genetic Test
This specialised Next-Generation Sequencing (NGS) test examines the POMGNT1 gene for mutations that cause severe congenital muscular dystrophy-dystroglycanopathy. When this gene doesn’t function properly, it affects how muscles, brain and eyes develop during pregnancy and early childhood.
Our test provides comprehensive analysis using the most advanced genetic technology available, giving you accurate results you can trust for making important healthcare decisions.
Who Should Consider This Genetic Test?
This test is crucial for families experiencing:
- Infants with weak muscle tone (hypotonia) and feeding difficulties
- Children with developmental delays in motor skills
- Abnormal brain development detected on scans
- Eye abnormalities including retinal issues or cataracts
- Family history of muscular dystrophy or similar conditions
- Unexplained seizures or neurological symptoms in infancy
If you’re planning a family and have concerns about genetic risks, this test can provide essential information for your reproductive decisions.
Why Early Detection Matters for Your Family’s Health
Getting answers through genetic testing provides multiple life-changing benefits:
- Early Intervention: Identify the condition early to start appropriate therapies and support
- Treatment Guidance: Help doctors create targeted care plans for your child’s specific needs
- Family Planning: Make informed decisions about future pregnancies
- Peace of Mind: Reduce uncertainty and anxiety with definitive answers
- Medical Management: Coordinate care between neurologists, ophthalmologists and rehabilitation specialists
Understanding Your Test Results
We know waiting for genetic results can be stressful. Our comprehensive reporting includes:
- Clear explanation of any POMGNT1 gene mutations found
- What the results mean for your child’s health and development
- Guidance on next steps and specialist referrals
- Genetic counselling to help you understand inheritance patterns
- Support resources for managing the condition
Our genetic counsellors are available to discuss your results and answer all your questions in plain language you can understand.
Affordable, Comprehensive Genetic Testing
| Service | Regular Price | Special Price |
|---|---|---|
| POMGNT1 Gene Test | ZAR 6,700 | |
| Genetic Counselling Session | INCLUDED | |
| Family Pedigree Analysis | INCLUDED | |
| Results Interpretation | INCLUDED | |
Turnaround Time: 3-4 weeks
Sample Required: Blood, Extracted DNA, or One drop Blood on FTA Card
Why South African Families Trust Oracle Genomics
- Nationwide Coverage: Available in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Medical Expertise: Specialised neurological genetic testing with board-certified professionals
- Advanced Technology: Latest NGS technology for maximum accuracy
- Comprehensive Support: Genetic counselling included with every test
- Patient-Focused Care: We understand the emotional journey of genetic testing
Take the First Step Toward Answers Today
Don’t let uncertainty about your child’s health create unnecessary stress. Our POMGNT1 genetic test provides the clarity you need to make informed decisions about their care and future.
Book your genetic counselling session and testing today:
- Call our dedicated genetic counselling team
- Schedule online through our secure portal
- Visit one of our nationwide collection centres
Early detection through genetic testing can make a significant difference in managing congenital muscular dystrophy. Take control of your family’s health journey with confidence and professional support from Oracle Genomics.
