Find Answers for Fragile Skin and Digestive Concerns
When your child’s skin blisters at the slightest touch and feeding becomes a struggle, the uncertainty can be overwhelming. Our PLEC Gene Epidermolysis Bullosa Simplex with Pyloric Atresia NGS Genetic DNA Test provides the clarity and answers South African families deserve. We understand the emotional toll of watching your child suffer from unexplained skin fragility and digestive blockages, and we’re here to help you navigate this challenging journey with compassion and expertise.
Understanding Your Genetic Test
This specialised test examines the PLEC gene using Next-Generation Sequencing (NGS) technology to identify mutations that cause Epidermolysis Bullosa Simplex with Pyloric Atresia. This rare genetic condition affects both the skin and digestive system, causing extreme skin fragility and blockages in the stomach outlet. Our advanced testing method provides comprehensive analysis with exceptional accuracy, giving you reliable results you can trust for making important healthcare decisions.
Who Should Consider This Test?
This test is essential for individuals or families experiencing:
- Newborns or infants with fragile, blistering skin from minor friction
- Difficulty feeding, persistent vomiting, or failure to thrive in infancy
- Family history of skin fragility disorders or digestive blockages
- Unexplained skin blistering that appears without obvious injury
- Previous children affected by similar skin and digestive symptoms
- Planning pregnancy with family history of genetic skin conditions
Early detection through genetic testing can significantly improve management strategies and quality of life.
Why This Test Matters for Your Family’s Health
Getting a definitive diagnosis provides numerous benefits:
- Peace of Mind: End the uncertainty about your child’s condition
- Personalised Care: Develop targeted treatment plans based on genetic findings
- Family Planning: Understand inheritance risks for future pregnancies
- Early Intervention: Implement protective measures before complications develop
- Reduced Anxiety: Replace fear with knowledge and control
- Medical Guidance: Connect with appropriate specialists for comprehensive care
Understanding Your Test Results
We make understanding your results straightforward and reassuring:
- Clear Reporting: Results presented in easy-to-understand language with medical guidance
- Genetic Counselling: Professional support to interpret findings and discuss implications
- Family Guidance: Information about inheritance patterns and risks to other family members
- Next Steps: Clear recommendations for medical follow-up and management strategies
- Ongoing Support: Access to resources and specialist referrals as needed
Our team ensures you never feel alone in understanding and acting on your results.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| PLEC Gene EB with Pyloric Atresia NGS Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
Test Includes: Comprehensive genetic analysis, professional genetic counselling session, detailed results report, and ongoing support.
Turnaround Time: 3-4 weeks
Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
Why Trust Oracle Genomics?
- Nationwide Coverage: Accessible testing across South Africa including Johannesburg, Cape Town, Durban, and Pretoria
- Medical Expertise: Specialised testing developed with dermatology specialists
- Advanced Technology: State-of-the-art NGS technology for maximum accuracy
- Professional Support: Genetic counselling included with every test
- Proven Reliability: Trusted by healthcare professionals across South Africa
- Patient-Focused: Empathetic care that understands your family’s needs
Take Control of Your Family’s Health Today
Don’t let uncertainty about skin fragility and digestive issues continue to worry you. Our specialised genetic testing provides the answers you need to move forward with confidence.
Remember: Every day without answers is another day of uncertainty. Take the first step toward clarity and better health management for your family.
