Understanding Osteopetrosis and Your Genetic Health
When you’re concerned about bone health or have experienced unexplained fractures in your family, the uncertainty can be overwhelming. Our PLEKHM1 Gene Osteopetrosis test provides the clarity you need to make informed decisions about your health and your family’s future. We understand that genetic testing can feel daunting, which is why we’ve created a supportive, confidential process that puts your comfort first.
What This Test Detects
This advanced NGS (Next-Generation Sequencing) test specifically examines the PLEKHM1 gene for mutations that cause Autosomal Recessive Osteopetrosis Type 6. This rare genetic condition affects bone development, leading to increased bone density that can cause complications including fractures, dental problems, and in some cases, bone marrow issues. By identifying these genetic changes, we can provide definitive answers about your genetic risk.
Who Should Consider This Test
This test is particularly important if you or your family members experience:
- Unexplained or frequent bone fractures
- Dental abnormalities or delayed tooth eruption
- Family history of osteopetrosis or brittle bone conditions
- Vision or hearing problems related to bone overgrowth
- Anaemia or other blood cell abnormalities
- Planning for pregnancy with family history of bone disorders
Why Early Detection Matters for Your Health
Knowing your genetic status empowers you to take proactive steps in managing your bone health. Early detection allows for:
- Timely medical interventions and monitoring
- Informed family planning decisions
- Prevention of complications through early treatment
- Peace of mind through definitive answers
- Access to specialised care and support resources
Understanding Your Results with Compassion
We know that waiting for genetic results can be anxiety-provoking. Our process includes:
- Comprehensive genetic counselling before testing
- Clear, easy-to-understand result explanations
- Support in understanding what your results mean for you and your family
- Guidance on next steps and available resources
- Complete confidentiality and professional handling of your sensitive information
Transparent Pricing – No Hidden Costs
| Service | Regular Price | Special Price |
|---|---|---|
| PLEKHM1 Gene Osteopetrosis NGS Test | ZAR 9,350 | ZAR 6,700 |
| Genetic Counselling Session | INCLUDED | |
| Family Pedigree Analysis | INCLUDED | |
| Result Interpretation | INCLUDED | |
Why Choose Oracle Genomics?
As South Africa’s trusted genetic testing partner, we provide:
- Nationwide Coverage – Available in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Medical Expertise – Working with qualified dermatologists and genetic specialists
- Advanced Technology – State-of-the-art NGS testing for maximum accuracy
- Patient-First Approach – We prioritise your comfort and understanding throughout the process
- Rapid Turnaround – Results typically within 3-4 weeks
Take Control of Your Genetic Health Today
Don’t let uncertainty about bone health conditions create unnecessary stress. Our compassionate team is here to guide you through every step of the genetic testing process. With convenient sample collection options including blood draw or simple FTA card, getting tested has never been easier.
Ready to Get Answers?
Book Your Test Today – Call us at [INSERT PHONE] or visit our website to schedule your genetic counselling session and testing.
Limited Time Offer – Save ZAR 2,650 on our comprehensive osteopetrosis testing package. This special pricing won’t last forever.
Convenient Locations – Testing available throughout South Africa with professional sample collection.
Your journey to genetic clarity starts with one simple step. Trust Oracle Genomics to provide the accurate, compassionate care you deserve.

