Find Answers for Your Child’s Bone Health Concerns
Watching your child struggle with bone pain, delayed growth, or difficulty walking can be heartbreaking. You want answers, and you want them quickly. Our CYP27B1 Gene Rickets Vitamin D Dependent Type 1 NGS Genetic DNA Test provides the clarity you need to understand your child’s condition and take the right steps toward effective treatment.
As parents, we understand the anxiety that comes with unexplained health issues in children. That’s why we’ve made this advanced genetic testing accessible and affordable for South African families.
Understanding the CYP27B1 Genetic Test
The CYP27B1 gene plays a crucial role in converting vitamin D into its active form, which is essential for proper calcium absorption and bone development. When this gene has mutations, it leads to vitamin D dependent rickets type 1 – a condition where the body cannot properly use vitamin D, causing weak, soft bones and developmental delays.
Our Next Generation Sequencing (NGS) technology examines your child’s DNA to identify any mutations in the CYP27B1 gene. This isn’t just a simple blood test – it’s a comprehensive genetic analysis that provides definitive answers about the underlying cause of bone health issues.
Who Should Consider This Genetic Test?
This test is particularly important if your child shows any of these symptoms:
- Delayed growth or short stature compared to peers
- Bone pain or tenderness, especially in legs and spine
- Muscle weakness or difficulty walking
- Bowing of legs or other bone deformities
- Dental problems or delayed tooth development
- Family history of rickets or bone disorders
If your child has been diagnosed with rickets but doesn’t respond to standard vitamin D treatment, this test can confirm whether they have the genetic form requiring specialised care.
Why Early Detection Matters for Your Child’s Future
Getting an accurate diagnosis through genetic testing can transform your child’s health journey:
- Prevent Permanent Damage: Early intervention can prevent irreversible bone deformities
- Targeted Treatment: Confirmed diagnosis leads to specific, effective treatment plans
- Family Planning: Understand inheritance patterns for future family decisions
- Peace of Mind: End the uncertainty and know exactly what you’re dealing with
- Better Outcomes: Children diagnosed early have significantly improved quality of life
Understanding Your Test Results
We know waiting for genetic test results can be stressful. That’s why we provide comprehensive support throughout the process:
Positive Result: If mutations are found in the CYP27B1 gene, our genetic counsellors will explain exactly what this means for your child’s treatment and long-term management. You’ll receive a detailed report that your paediatrician can use to create a targeted treatment plan.
Negative Result: If no mutations are detected, this helps rule out vitamin D dependent rickets type 1, allowing your doctor to explore other potential causes for your child’s symptoms.
Either way, you’ll have the information needed to make informed decisions about your child’s healthcare.
Affordable Genetic Testing for South African Families
| Test Option | Regular Price | Special Price | Savings |
|---|---|---|---|
| CYP27B1 Gene Rickets Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
Price includes genetic counselling session and comprehensive results interpretation
Considering the cost of ongoing medical treatments and potential complications from undiagnosed rickets, this test represents excellent value for your family’s health investment.
Why Trust Oracle Genomics?
Nationwide Coverage: We serve patients across South Africa, with convenient testing locations in Johannesburg, Cape Town, Durban, Pretoria, and other major cities.
Advanced Technology: Our NGS testing provides 99.9% accuracy in detecting CYP27B1 gene mutations.
Expert Support: Every test includes genetic counselling to ensure you fully understand your results and their implications.
Quick Turnaround: Receive your results within 3-4 weeks, allowing for prompt medical intervention.
Multiple Sample Options: We accept blood samples, extracted DNA, or simple blood spots on FTA cards for your convenience.
Take the First Step Toward Answers Today
Don’t let uncertainty about your child’s bone health continue. Early detection through genetic testing can make all the difference in preventing long-term complications and ensuring proper treatment.
Book your CYP27B1 genetic test now and take advantage of our special pricing of ZAR 6,700. Our team is ready to guide you through the process and provide the answers your family deserves.
Contact us today to schedule your genetic counselling session and testing. Your child’s healthy future starts with getting the right answers.
