Find Clarity About Joubert Syndrome in Your Family
When you notice developmental delays or neurological symptoms in your child, the uncertainty can be overwhelming. Our KIAA0586 Gene Joubert Syndrome Type 23 NGS Genetic DNA Test provides the answers you need with compassion and clinical excellence. We understand the emotional weight of seeking genetic answers, and we’re here to support your family every step of the way.
Understanding the KIAA0586 Joubert Syndrome Test
This specialised genetic test uses advanced Next-Generation Sequencing (NGS) technology to examine the KIAA0586 gene for mutations that cause Joubert Syndrome Type 23. Think of it as a highly precise genetic microscope that can identify the specific changes in your DNA that may be responsible for neurological symptoms. Unlike basic genetic tests, our NGS approach provides comprehensive analysis with exceptional accuracy, giving you reliable results you can trust for making important health decisions.
Who Should Consider This Genetic Test?
This test is particularly important if you or your child experience:
- Developmental delays in motor skills or speech
- Abnormal eye movements or vision problems
- Breathing pattern abnormalities
- Poor muscle coordination or balance issues
- Intellectual disability of unknown cause
- Family history of Joubert Syndrome or similar neurological conditions
Many South African families find relief in having clear genetic answers that help guide treatment and support strategies.
Why Early Genetic Testing Matters for Your Family’s Health
Getting definitive answers through genetic testing can transform your family’s healthcare journey. Early detection allows for:
- Personalised treatment and intervention plans
- Better understanding of prognosis and expected outcomes
- Informed family planning decisions
- Access to appropriate support services and resources
- Peace of mind through accurate diagnosis
- Potential participation in clinical trials or research studies
Knowing the genetic cause empowers you to make the best decisions for your child’s development and wellbeing.
Understanding Your Test Results with Compassion
We know waiting for genetic results can be anxiety-provoking. That’s why we provide clear, compassionate explanations of your results:
- Positive Result: Indicates a mutation in the KIAA0586 gene associated with Joubert Syndrome. Our genetic counsellors will explain what this means for your family and connect you with appropriate specialists.
- Negative Result: No Joubert Syndrome-related mutations were found in the KIAA0586 gene. This can provide significant relief and help guide further medical investigation if symptoms persist.
- Uncertain Variant: Sometimes we find genetic changes with unknown significance. Our team will explain these findings and recommend appropriate follow-up.
Every result comes with professional genetic counselling to ensure you fully understand the implications for your family.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| KIAA0586 Joubert Syndrome NGS Test | ZAR 6,700 | ZAR 2,650 | |
| Genetic Counselling Session | Included at no extra cost | ||
| Family Pedigree Analysis | Included in comprehensive service | ||
Considering the lifelong impact of an accurate diagnosis, this test represents exceptional value for South African families.
Why South African Families Trust Oracle Genomics
- Nationwide Coverage: Accessible testing centres in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Expert Genetic Team: Board-certified genetic counsellors and neurologists
- Advanced Technology: State-of-the-art NGS sequencing for maximum accuracy
- Rapid Turnaround: Results in 3-4 weeks – faster than many international labs
- Multiple Sample Options: Blood, extracted DNA, or simple FTA card blood spot
- Comprehensive Support: From initial counselling to result explanation
Take the First Step Toward Genetic Clarity Today
Don’t let uncertainty about Joubert Syndrome create unnecessary stress for your family. Our compassionate team is ready to help you understand your genetic health with professionalism and care.
Limited Time Special: Book your genetic counselling and testing before this ZAR 2,650 savings ends. Early detection can make a significant difference in management and outcomes.
“Many families tell us they wish they had pursued genetic testing sooner. The clarity it provides often reduces anxiety and helps focus on appropriate interventions and support.” – Oracle Genomics Genetic Counsellor
