Understanding Beckwith-Wiedemann Syndrome and the KCNQ1OT1 Gene Test
When you’re concerned about unusual growth patterns or developmental issues in your child, the uncertainty can be overwhelming. Beckwith-Wiedemann syndrome is a complex genetic condition that affects growth and development, and our KCNQ1OT1 gene test provides the clarity you need to make informed healthcare decisions for your family.
What This Test Detects
This advanced genetic test specifically examines the KCNQ1OT1 gene, which plays a crucial role in regulating growth and development. Using Next-Generation Sequencing (NGS) technology, we identify mutations that can lead to Beckwith-Wiedemann syndrome – a condition characterized by overgrowth, abdominal wall defects, and increased cancer risk in childhood.
Who Should Consider This Test?
This test is essential for families experiencing:
- Unexplained overgrowth or large birth size in infants
- Abdominal wall defects like umbilical hernia or omphalocele
- Macroglossia (enlarged tongue) affecting feeding or breathing
- Ear creases or pits that may indicate genetic concerns
- Family history of growth disorders or childhood cancers
- Hypoglycemia (low blood sugar) in newborns
Why Early Detection Matters for Your Family’s Health
Early identification of Beckwith-Wiedemann syndrome through KCNQ1OT1 gene testing provides critical benefits:
- Cancer Surveillance: Enables targeted screening for Wilms tumour and hepatoblastoma
- Growth Management: Allows proactive monitoring of asymmetric overgrowth
- Treatment Planning: Guides appropriate interventions for associated conditions
- Family Planning: Provides genetic counselling for future pregnancies
- Peace of Mind: Reduces uncertainty and empowers informed decisions
Understanding Your Results with Compassion
Our genetic counsellors provide comprehensive support throughout your testing journey. We’ll help you understand what your results mean for your family’s health, discussing implications and next steps with empathy and professionalism. Whether your results indicate a genetic mutation or provide reassuring clarity, we’re here to guide you every step of the way.
Transparent Pricing and Value
| Service | Regular Price | Special Price |
|---|---|---|
| KCNQ1OT1 Gene Test | ZAR 9,350 | ZAR 6,700 |
| Genetic Counselling | Included | |
| Family Pedigree Analysis | Included | |
Consider the long-term value: Early detection can prevent costly complications and provide priceless peace of mind for your family’s future.
Trust and Nationwide Accessibility
Oracle Genomics brings world-class genetic testing to families across South Africa. Our services are available in major centres including Johannesburg, Cape Town, Durban, and Pretoria, with reliable courier services covering all regions. Our NGS technology ensures 99.9% accuracy, and our team includes experienced genetic counsellors and oncologists dedicated to your family’s wellbeing.
Take Action Today for Your Family’s Health
Don’t let uncertainty about genetic conditions cloud your family’s future. Our KCNQ1OT1 gene test provides the answers you need with:
- Quick Turnaround: Results in 3-4 weeks
- Multiple Sample Options: Blood, extracted DNA, or simple FTA card
- Professional Support: Comprehensive genetic counselling included
- Nationwide Coverage: Accessible across South Africa
Book your consultation today and take the first step toward understanding your genetic health. Early detection saves lives and provides the clarity every family deserves.
