Understanding POMT2-Related Congenital Muscular Dystrophy
When you’re concerned about your child’s muscle development or facing the uncertainty of congenital conditions in your family, finding clear answers becomes your top priority. Our POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Type B2 test provides the definitive genetic information you need to understand this complex neurological condition that affects both muscle function and cognitive development from birth.
What This Test Detects
This advanced NGS (Next-Generation Sequencing) genetic test specifically identifies mutations in the POMT2 gene, which is responsible for producing a protein essential for proper muscle and brain development. When this gene doesn’t function correctly, it leads to congenital muscular dystrophy-dystroglycanopathy type B2 – a condition characterized by muscle weakness present at birth, developmental delays, and varying degrees of intellectual disability.
Who Should Consider This Test
This test is particularly important for families experiencing:
- Infants or children with congenital muscle weakness or hypotonia
- Developmental delays in motor skills or cognitive function
- Family history of muscular dystrophy or similar neurological conditions
- Unexplained intellectual disability in multiple family members
- Abnormal brain MRI findings suggestive of dystroglycanopathy
- Elevated creatine kinase levels in blood tests
Why Early Genetic Testing Matters
Getting a definitive genetic diagnosis provides multiple crucial benefits for your family’s health journey:
- Accurate Diagnosis: Move beyond symptom management to understanding the root cause
- Family Planning Guidance: Understand inheritance patterns and recurrence risks
- Personalized Care Planning: Tailor interventions and therapies to your child’s specific needs
- Peace of Mind: Reduce the uncertainty and anxiety of not knowing
- Early Intervention: Access appropriate support services and treatments sooner
Understanding Your Results
Our comprehensive genetic counselling session ensures you fully understand your test results and their implications. We’ll help you interpret whether a POMT2 gene mutation was detected and what this means for your child’s health management and your family’s future. Our neurologists and genetic counsellors provide clear, compassionate guidance every step of the way.
Comprehensive Pricing & Value
| Service | Regular Price | Special Price |
|---|---|---|
| POMT2 Gene NGS Test | ZAR 9,350 | ZAR 6,700 |
| Genetic Counselling Session | INCLUDED | |
| Family Pedigree Analysis | INCLUDED | |
| Results Interpretation | INCLUDED | |
Test Details:
- Turnaround Time: 3-4 weeks
- Sample Type: Blood, Extracted DNA, or Blood on FTA Card
- Technology: Next-Generation Sequencing (NGS)
- Specialty: Neurological Genetics
Nationwide Trust & Accessibility
Oracle Genomics brings expert neurological genetic testing to families across South Africa. With convenient testing locations in Johannesburg, Cape Town, Durban, Pretoria and nationwide coverage, you can access world-class genetic diagnostics close to home. Our NGS technology ensures the highest accuracy standards, giving you confidence in every result.
Take the Next Step Toward Clarity
Don’t let uncertainty about congenital conditions delay your family’s access to proper care and support. Our compassionate team understands the emotional journey of genetic testing and is here to support you with:
- Easy online booking and telephonic consultations
- Flexible sample collection options
- Comprehensive pre-test genetic counselling
- Clear, understandable result explanations
- Ongoing support and referral networks
Book your POMT2 genetic test today and take the first step toward understanding your family’s genetic health. Early detection means earlier intervention and better outcomes for your child’s development and quality of life.
