Understanding SHORT Syndrome: Your Path to Genetic Clarity
When you’re concerned about growth patterns, developmental delays, or potential genetic conditions affecting your child, the uncertainty can be overwhelming. Our PIK3R1 Gene SHORT Syndrome NGS Genetic DNA Test provides the answers you need with compassion and clinical excellence. We understand the emotional journey of families facing genetic health questions, which is why we’ve created a testing experience that prioritises your peace of mind.
What This Test Reveals About Your Genetic Health
The PIK3R1 gene plays a crucial role in regulating growth and development. SHORT syndrome (Short stature, Hyperextensibility of joints, Ocular depression, Rieger anomaly, Teething delay) is a rare genetic condition caused by mutations in this gene. Our advanced Next-Generation Sequencing (NGS) technology examines your DNA with exceptional precision, identifying even the smallest genetic variations that could impact health outcomes.
Unlike basic genetic screens, our comprehensive analysis provides definitive results, eliminating the guesswork and uncertainty that often accompanies growth and development concerns in children.
Is This Test Right for Your Family?
This test is particularly important if your child or family members experience:
- Unexplained short stature or growth delays
- Joint hypermobility or flexibility concerns
- Eye abnormalities including deep-set eyes or Rieger anomaly
- Delayed tooth development or dental concerns
- Family history of similar growth patterns
- Developmental milestones not being met as expected
Many South African families find reassurance through early genetic testing, allowing for proactive health management and appropriate medical interventions.
Why Early Detection Matters for Your Child’s Future
Understanding your genetic profile provides more than just answers – it offers empowerment. Early detection of SHORT syndrome enables:
- Personalised growth monitoring and management plans
- Targeted medical interventions at the optimal time
- Reduced anxiety through definitive diagnosis
- Informed family planning decisions
- Connection to appropriate specialist care networks
- Peace of mind knowing you’re taking proactive health steps
Many parents report significant relief once they have clear genetic information to guide their child’s healthcare journey.
Understanding Your Results with Compassion
We know that waiting for genetic test results can be stressful. That’s why every PIK3R1 test includes comprehensive genetic counselling both before and after testing. Our certified genetic counsellors will:
- Explain your results in clear, understandable language
- Discuss what the findings mean for your family’s health
- Provide guidance on next steps and specialist referrals
- Address any questions or concerns with empathy
- Help you develop a personalised health management plan
Your results will be presented in a confidential, supportive environment, ensuring you feel empowered rather than overwhelmed.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| PIK3R1 SHORT Syndrome NGS Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
| Includes genetic counselling, comprehensive analysis, and detailed results explanation | |||
Consider the long-term value: early genetic detection can prevent years of uncertainty and guide appropriate medical care that may save significantly on future healthcare costs.
Why South African Families Trust Oracle Genomics
- Nationwide Coverage: Accessible testing centres in Johannesburg, Cape Town, Durban, Pretoria and major cities across South Africa
- Medical Excellence: Certified genetic counsellors and NGS technology with 99.9% accuracy
- Complete Confidentiality: Your genetic information is protected with the highest security standards
- Proven Expertise: Specialised in pediatric genetic testing with thousands of successful cases
- Comprehensive Support: From initial consultation through to results explanation and beyond
Test Information at a Glance
- Turnaround Time: 3-4 weeks
- Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
- Preparation: Clinical history and genetic counselling session to create family pedigree
- Technology: Next-Generation Sequencing (NGS)
- Specialty: Pediatric Genetics
Take the First Step Toward Genetic Clarity Today
Don’t let uncertainty about genetic health concerns create unnecessary stress for your family. With our special pricing of ZAR 6,700, there’s never been a better time to gain the answers you deserve.
Limited Time Offer: This special pricing of ZAR 6,700 (regularly ZAR 9,350) won’t last forever. Secure your family’s genetic health journey today.
Our team is ready to support you with compassion and clinical excellence. Contact us now to begin your journey to genetic clarity.
