Find Clarity About Ullrich Congenital Muscular Dystrophy
When your child shows signs of muscle weakness or developmental delays, the uncertainty can be overwhelming. Our COL6A2 gene test provides the definitive answers you need to understand and manage Ullrich congenital muscular dystrophy. We’re here to guide you through this journey with compassion and medical expertise.
Understanding the COL6A2 Gene Test
This advanced Next-Generation Sequencing (NGS) test examines the COL6A2 gene for mutations that cause Ullrich congenital muscular dystrophy – a rare condition affecting muscle strength and joint flexibility from early childhood. Unlike basic genetic screenings, our comprehensive analysis provides detailed information about specific genetic variations, giving you and your healthcare team the precise data needed for accurate diagnosis and management.
Who Should Consider This Test?
This test is particularly important if your child shows:
- Early muscle weakness or poor muscle tone
- Delayed motor milestones (sitting, standing, walking)
- Joint hypermobility or contractures
- Family history of muscular dystrophy
- Unexplained respiratory difficulties
- Scoliosis or spinal curvature
Even if symptoms are mild, early genetic testing can provide crucial information for proactive healthcare management.
Why Early Detection Matters for Your Family
Getting a definitive diagnosis through genetic testing transforms uncertainty into actionable healthcare. Knowing the specific genetic cause enables:
- Personalised treatment and therapy plans
- Better management of symptoms and complications
- Informed family planning decisions
- Access to specialised care and support services
- Peace of mind through clear understanding
Early intervention can significantly improve quality of life and help prevent secondary complications.
Understanding Your Results with Compassion
We know waiting for genetic results can be stressful. Our comprehensive approach includes:
- Genetic Counselling Session: Before testing, our certified genetic counsellor helps create your family pedigree and explains what to expect
- Clear Result Interpretation: Your report will clearly explain findings in understandable language
- Follow-up Support: We help connect you with appropriate specialists and support resources
- Family Guidance: Information about what results mean for other family members
Remember: Knowledge empowers better healthcare decisions, regardless of the outcome.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| COL6A2 Gene Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
| Genetic Counselling | Included at no extra cost | ||
| Result Interpretation | Included with comprehensive support | ||
Considering the lifelong impact of accurate diagnosis, this test represents exceptional value in proactive healthcare investment.
Why Trust Oracle Genomics?
Nationwide Accessibility
Available throughout South Africa including Johannesburg, Cape Town, Durban, and Pretoria. We bring advanced genetic testing to your community.
Medical Expertise
Specialised neurology-focused genetic testing with 99.9% accuracy using cutting-edge NGS technology.
Comprehensive Care
From pre-test genetic counselling to post-result support, we guide you through every step.
Multiple Sample Options
Choose from blood draw, extracted DNA, or simple finger-prick blood spot on FTA card for convenience.
Test Information
- Turnaround Time: 3-4 weeks
- Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
- Preparation: Clinical history and genetic counselling session required
- Specialty: Neurology
- Method: Next-Generation Sequencing (NGS) Technology
Take the First Step Toward Clarity
Don’t let uncertainty about muscle weakness or developmental concerns continue to worry you. Early genetic testing provides the answers needed for proper care and peace of mind.
Early detection leads to better outcomes. Every day matters when it comes to managing muscular conditions. Book your test now to start your journey toward clarity and proper care.
