Understanding Your Child’s Persistent Diarrhoea: Finding Answers Through Genetic Testing
As a parent, watching your child suffer from persistent, severe diarrhoea that doesn’t respond to conventional treatments can be heartbreaking and frightening. You’ve tried everything – dietary changes, medications, specialist consultations – yet the symptoms continue. Our MYO5B gene test offers the clarity and answers you’ve been searching for, providing a definitive diagnosis for diarrhoea type 2 with microvillus atrophy.
What This Test Detects: Understanding MYO5B Gene Mutations
This advanced Next-Generation Sequencing (NGS) test specifically examines the MYO5B gene for mutations that cause microvillus inclusion disease. When this gene doesn’t function properly, it disrupts the normal development of microvilli – the tiny hair-like projections in the intestine that absorb nutrients. Without properly functioning microvilli, your child’s body cannot absorb essential nutrients, leading to life-threatening diarrhoea and malnutrition from birth or early infancy.
Who Should Consider This Test: Recognising the Symptoms
This test is crucial for families where infants or young children experience:
- Persistent, watery diarrhoea starting in the first days or weeks of life
- Failure to thrive despite adequate calorie intake
- Severe dehydration requiring frequent hospitalisation
- No response to standard diarrhoea treatments or dietary changes
- Family history of similar gastrointestinal conditions
- Developmental delays due to malnutrition
Why Early Genetic Testing Matters for Your Child’s Health
Getting an accurate diagnosis through genetic testing can be life-changing for your child:
- Proper Treatment Planning: Confirms the need for specialised nutritional support, often including total parenteral nutrition (TPN)
- Family Planning Guidance: Helps understand inheritance patterns for future pregnancies
- Reduced Diagnostic Uncertainty: Ends the frustrating cycle of inconclusive tests and treatments
- Improved Quality of Life: Enables targeted management strategies that can significantly improve outcomes
- Peace of Mind: Provides certainty about your child’s condition after months or years of uncertainty
Understanding Your Results: Clear Guidance and Support
We understand that genetic test results can be overwhelming. That’s why every test includes comprehensive genetic counselling where our specialists will:
- Explain your results in clear, understandable language
- Discuss what the findings mean for your child’s treatment and prognosis
- Create a family pedigree chart to visualise inheritance patterns
- Provide guidance on managing your child’s specific condition
- Connect you with appropriate specialists and support resources
Transparent Pricing and Exceptional Value
| Service | Regular Price | Special Price |
|---|---|---|
| MYO5B Gene Test | ZAR 9,350 | ZAR 6,700 |
| Genetic Counselling Session | INCLUDED | |
| Family Pedigree Analysis | INCLUDED | |
| Results Interpretation | INCLUDED | |
Considering the cost of repeated hospitalisations, specialist consultations, and ineffective treatments, this genetic test represents significant long-term savings while providing the answers you need.
Nationwide Access to Advanced Genetic Testing
We believe every South African family deserves access to advanced genetic diagnostics. Our services are available throughout South Africa with convenient testing locations in:
- Johannesburg: Multiple collection centres across the city
- Cape Town: State-of-the-art facilities with expert genetic counsellors
- Durban: Comprehensive genetic testing services
- Pretoria: Specialised paediatric genetic services
- Plus nationwide network coverage
Take the First Step Toward Answers Today
Don’t let uncertainty about your child’s health continue. Every day without a proper diagnosis means delayed appropriate treatment and continued suffering. Our team of genetic specialists, gastroenterologists, and counsellors are ready to help you get the answers that could transform your child’s health journey.
Book your genetic counselling session and testing today:
- Call our dedicated genetic helpline: [Phone Number]
- Visit our website to schedule online
- Speak with your paediatrician about referral
- Walk into any of our nationwide collection centres
With results typically available within 3-4 weeks and comprehensive support throughout the process, you’re not just getting a test – you’re gaining a partner in your child’s healthcare journey. Take control of your child’s health today and get the definitive answers you deserve.
