Finding Answers for Your Child’s Bone Health Concerns
When your child experiences unexplained bone pain, delayed tooth development, or frequent fractures, the uncertainty can be overwhelming. As parents, we understand the deep concern you feel watching your child struggle. Our ALPL Gene Hypophosphatasia Childhood NGS Genetic DNA Test provides the clarity and answers you deserve, using cutting-edge Next Generation Sequencing technology to deliver accurate, reliable results.
Understanding Hypophosphatasia Genetic Testing
Hypophosphatasia is a rare genetic disorder that affects bone and tooth development in children. The ALPL gene provides instructions for making an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP), which is essential for proper bone mineralisation. When mutations occur in this gene, it can lead to soft bones, early tooth loss, and skeletal abnormalities.
Our NGS (Next Generation Sequencing) technology examines the entire ALPL gene with exceptional precision, identifying even the smallest genetic variations that could impact your child’s bone health. This comprehensive approach ensures no potential mutation goes undetected.
Is This Test Right for Your Child?
Consider genetic testing if your child experiences:
- Unexplained bone pain or tenderness
- Delayed tooth development or early tooth loss
- Frequent fractures with minimal trauma
- Short stature or skeletal deformities
- Family history of bone disorders
- Abnormal alkaline phosphatase levels in blood tests
- Difficulty walking or delayed motor development
Early detection is crucial – identifying hypophosphatasia in childhood allows for timely intervention and management strategies that can significantly improve your child’s quality of life.
Why Early Detection Matters for Your Child’s Future
Getting a definitive diagnosis through genetic testing provides numerous benefits:
- Peace of Mind: End the uncertainty and get clear answers about your child’s condition
- Personalised Treatment: Enable healthcare providers to create targeted management plans
- Family Planning: Understand inheritance patterns for future family decisions
- Prevent Complications: Early intervention can prevent serious bone complications
- Educational Support: Help schools understand and accommodate your child’s needs
Understanding Your Test Results
We know waiting for genetic test results can be anxiety-provoking. Our process is designed to provide clarity and support:
Positive Result: If a mutation is detected, our genetic counsellors will explain exactly what this means for your child’s health and provide guidance on next steps, treatment options, and specialist referrals.
Negative Result: If no mutations are found, this can provide significant relief and help direct further medical investigation toward other potential causes of symptoms.
Variant of Uncertain Significance: Occasionally, we find genetic changes whose impact isn’t fully understood. In these cases, we provide ongoing monitoring and may recommend family testing for clarification.
Every result includes a comprehensive consultation with our genetic specialists to ensure you fully understand the findings and their implications.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| ALPL Gene Hypophosphatasia Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
| Genetic Counselling Session | Included at no extra cost | ||
| Family Pedigree Analysis | Included at no extra cost | ||
Consider the long-term value: Early diagnosis can prevent costly hospitalisations and specialist visits down the line.
Why Thousands of South African Families Trust Oracle Genomics
Nationwide Accessibility: We serve patients across South Africa with convenient testing locations in Johannesburg, Cape Town, Durban, Pretoria and surrounding areas.
Medical Expertise: Our tests are developed and interpreted by South Africa’s leading genetic specialists with decades of combined experience in paediatric genetics.
Accuracy Guarantee: We use state-of-the-art NGS technology with 99.9% accuracy rates, ensuring you receive reliable, definitive results.
Comprehensive Support: From pre-test genetic counselling to post-result guidance, we’re with you every step of the way.
Rapid Turnaround: Receive your results within 3-4 weeks – faster than many international laboratories.
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 a profound difference in their development and quality of life.
Three Easy Ways to Get Started:
- Online Booking: Schedule your genetic counselling session through our secure portal
- Phone Consultation: Speak directly with our genetic specialists to discuss your concerns
- Doctor Referral: Ask your paediatrician or GP for a referral to Oracle Genomics
Limited time special pricing of ZAR 6,700 available. Don’t delay – your child’s bone health is worth investing in today.
Simple Testing Process
Sample collection is quick and comfortable for your child. We accept:
- Blood sample (small amount)
- Extracted DNA
- One drop of blood on FTA card (minimally invasive)
Preparation includes providing clinical history and attending a genetic counselling session to create your family’s health pedigree chart.
