Find Clarity for Skin and Muscle Health Concerns
When you’re experiencing unexplained skin blistering alongside muscle weakness, the uncertainty can feel overwhelming. Our PLEC Gene NGS Test provides the definitive answers you need to understand and manage epidermolysis bullosa simplex with muscular dystrophy. For thousands of South African families, this test has been the turning point toward better health management and peace of mind.
Understanding Your PLEC Gene Test
The PLEC gene plays a crucial role in maintaining the structural integrity of both your skin and muscles. When mutations occur in this gene, it can lead to two challenging conditions appearing together: epidermolysis bullosa simplex (causing fragile, blistering skin) and muscular dystrophy (progressive muscle weakness). Our advanced Next Generation Sequencing technology examines your PLEC gene with exceptional precision, identifying even the smallest genetic variations that could be affecting your health.
Who Should Consider This Test?
This test is particularly important if you or your family members experience:
- Unexplained skin blistering or fragility, especially after minor trauma
- Progressive muscle weakness that seems to be worsening over time
- Difficulty with mobility or muscle function alongside skin issues
- Family history of either epidermolysis bullosa or muscular dystrophy
- Delayed motor development in children with skin sensitivity
- Recurrent skin infections due to blistering and open wounds
Many South Africans initially attribute these symptoms to other causes, but genetic testing provides the clarity needed for proper diagnosis and treatment.
Why Early Detection Matters for Your Health
Getting a definitive diagnosis through genetic testing can transform your healthcare journey:
- Personalised Treatment Plans: Knowing your specific genetic mutation allows doctors to create targeted management strategies
- Family Planning Guidance: Understand inheritance patterns and make informed decisions about starting a family
- Proactive Health Monitoring: Early detection enables regular monitoring for potential complications
- Reduced Diagnostic Uncertainty: End the cycle of multiple doctor visits and inconclusive tests
- Access to Specialised Care: Connect with dermatologists and neurologists who understand your specific condition
Understanding Your Test Results
We understand that waiting for genetic test results can be anxiety-provoking. Our process is designed to provide clarity and support:
- Comprehensive Genetic Counselling: Before testing, you’ll meet with our genetic counsellor to create a family pedigree and discuss what to expect
- Clear Result Interpretation: Your results will be explained in straightforward language you can understand
- Personalised Recommendations: Based on your results, we provide specific guidance for next steps and specialist referrals
- Ongoing Support: Our team remains available to answer questions as you process your results
Whether your results show a genetic mutation or provide reassuring clarity, you’ll have the information needed to move forward confidently.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price |
|---|---|---|
| PLEC Gene NGS Test | ZAR 6,700 | |
| Genetic Counselling Session | Included at no extra cost | |
| Result Interpretation | Included with comprehensive support | |
Consider this investment in your health: early detection can prevent years of unnecessary suffering and medical expenses. Many patients find that the clarity gained from genetic testing is priceless.
Why Trust Oracle Genomics?
As South Africa’s leading genetic testing provider, we’ve built our reputation on accuracy, compassion, and reliability:
- Nationwide Coverage: Accessible testing centres in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Neurological Specialisation: Our tests are developed and interpreted by specialist neurologists
- 99.9% Accuracy Rate: Advanced NGS technology ensures reliable results you can trust
- Rapid Turnaround: Results typically available within 3-4 weeks
- Multiple Sample Options: Blood, extracted DNA, or simple blood spot on FTA card
- Comprehensive Support: From initial counselling to result interpretation, we’re with you every step
Take the First Step Toward Clarity Today
Don’t let uncertainty about your skin and muscle health continue to affect your quality of life. Early detection through genetic testing provides the foundation for effective management and improved outcomes.
Limited Time Offer: Our special pricing of ZAR 6,700 represents significant savings while maintaining our commitment to quality and accuracy. Take advantage of this opportunity to gain the clarity you deserve.
“The peace of mind from knowing exactly what we were dealing with changed everything for our family.” – Previous Patient, Cape Town
