Finding Answers for Your Child’s Unique Health Journey
When your child shows unusual developmental patterns or distinctive facial features, the uncertainty can be overwhelming. As South African parents, you deserve clear answers and compassionate guidance. Our KMT2D Gene Kabuki Syndrome Type 1 NGS Genetic DNA Test provides the definitive diagnosis you need to understand your child’s genetic makeup and plan for their optimal development.
Understanding the KMT2D Genetic Test
Kabuki Syndrome Type 1 is a rare genetic condition that affects multiple body systems, and our advanced Next-Generation Sequencing (NGS) technology examines the KMT2D gene with exceptional precision. Unlike traditional genetic tests, NGS provides comprehensive analysis of the entire gene, ensuring no mutation goes undetected. This thorough approach gives you the confidence of knowing you have the most accurate genetic information available.
Is This Test Right for Your Child?
Many South African families find peace of mind through genetic testing when they notice:
- Distinctive facial features (long eyelashes, arched eyebrows, broad nose)
- Developmental delays or intellectual disability
- Growth deficiencies or short stature
- Skeletal abnormalities or joint laxity
- Hearing loss or vision problems
- Heart defects or other congenital abnormalities
If your child exhibits these characteristics or has a family history of genetic conditions, this test can provide the clarity needed for proper medical management.
Why Early Detection Matters for Your Child’s Future
Receiving a definitive diagnosis through genetic testing transforms uncertainty into actionable healthcare. Early detection of Kabuki Syndrome enables:
- Personalised Treatment Plans: Tailored interventions for developmental, educational, and medical needs
- Family Planning Guidance: Understanding inheritance patterns for future family decisions
- Proactive Health Monitoring: Early identification and management of associated health risks
- Educational Support: Access to appropriate learning resources and support systems
- Emotional Peace: Ending the diagnostic odyssey and focusing on your child’s wellbeing
Understanding Your Genetic Test Results
We know waiting for genetic results can be anxiety-provoking. Our comprehensive genetic counselling ensures you receive your results with complete understanding and support. Your report will clearly indicate:
- Presence or absence of KMT2D gene mutations
- Specific genetic variations identified
- Clinical significance and implications
- Recommended next steps and specialist referrals
- Family testing recommendations if applicable
Our genetic counsellors are available to explain your results in plain language and connect you with appropriate medical specialists throughout South Africa.
Transparent Pricing for Peace of Mind
| Test Description | Regular Price | Special Price | Turnaround Time |
|---|---|---|---|
| KMT2D Gene Kabuki Syndrome Type 1 NGS Test | ZAR 6,700 | 3-4 Weeks |
Sample Requirements: Blood, Extracted DNA, or One Drop Blood on FTA Card
Preparation Needed: Clinical History and Genetic Counselling Session
Consider this investment in your child’s health: early diagnosis can prevent years of unnecessary medical visits and provide targeted interventions that significantly improve quality of life.
Why South African Families Trust Oracle Genomics
- Nationwide Coverage: Accessible testing services across South Africa including Johannesburg, Cape Town, Durban, and Pretoria
- Medical Expertise: Board-certified genetic specialists and counsellors
- Advanced Technology: State-of-the-art NGS technology for maximum accuracy
- Patient-Centred Care: Empathetic support throughout your genetic testing journey
- Proven Accuracy: Industry-leading detection rates for genetic mutations
Take the First Step Toward Genetic Clarity
Don’t let uncertainty about your child’s health continue. Early diagnosis through genetic testing provides the foundation for optimal development and wellbeing. Our special pricing of ZAR 6,700 makes this crucial testing accessible to South African families.
Limited Time Offer: Secure your special pricing of ZAR 6,700 before this opportunity ends. Every day without answers is a day without the targeted care your child deserves.
Contact Oracle Genomics today and transform uncertainty into actionable healthcare for your child’s brighter future.

