Understanding PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome
As a parent, watching your child struggle with developmental delays can be heartbreaking and overwhelming. You’re not alone in your concerns, and getting clear answers is the first step toward providing the right support for your child’s unique needs. Our PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 test offers the definitive clarity South African families deserve.
What This Test Detects
This advanced genetic test specifically identifies mutations in the PIGV gene, which is responsible for a rare condition characterised by elevated alkaline phosphatase levels (hyperphosphatasia) combined with intellectual disability and developmental delays. Understanding the genetic basis of these symptoms can transform your approach to your child’s care and development.
Who Should Consider This Test
This test is particularly important for families where children show:
- Unexplained developmental delays or intellectual disability
- Persistently elevated alkaline phosphatase levels
- Facial features associated with genetic syndromes
- Family history of similar developmental concerns
- Multiple unexplained health issues in early childhood
Why Early Detection Matters for Your Child’s Future
Getting an accurate diagnosis through genetic testing provides more than just answers – it opens doors to targeted interventions, appropriate educational support, and personalised medical care. Early identification allows for:
- Tailored developmental support programmes
- Appropriate educational planning
- Family planning guidance for future pregnancies
- Connection to specialised support networks
- Peace of mind through definitive diagnosis
Understanding Your Results with Compassion
We know that waiting for genetic test results can be an anxious time. That’s why we provide comprehensive genetic counselling both before and after testing. Our specialists will walk you through your results in clear, understandable language, explaining what they mean for your child’s health and development. Whether the results confirm a diagnosis or provide reassuring information, you’ll have the support you need to make informed decisions about your child’s care.
Affordable, Accessible Genetic Testing for South African Families
| Service | Regular Price | Special Price |
|---|---|---|
| PIGV Gene Test with Genetic Counselling | ZAR 9,350 | ZAR 6,700 |
| Turnaround Time | 3-4 Weeks | |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card | |
Consider the long-term value: an accurate diagnosis can save thousands in unnecessary medical tests and provide direction for interventions that significantly improve quality of life.
Trust Oracle Genomics for Your Family’s Genetic Health
We’re committed to making advanced genetic testing accessible across South Africa. With collection points in Johannesburg, Cape Town, Durban, and Pretoria, professional genetic counselling included in every test, and the reassurance of NGS technology accuracy, you can trust us with your family’s most important health decisions.
Take the First Step Toward Clarity Today
Don’t let uncertainty about your child’s development create unnecessary stress. Our genetic counsellors are ready to help you understand your options and guide you through the testing process. Book your consultation today and take control of your family’s genetic health journey.
Call now to speak with a genetic specialist or book your test online. Early detection makes all the difference in your child’s developmental journey.
