Understanding PHGDH Gene Deficiency: Your Path to Clarity and Peace of Mind
When neurological symptoms appear or family history raises concerns, the uncertainty can feel overwhelming. We understand the anxiety that comes with not knowing whether you or your loved ones might be affected by phosphoglycerate dehydrogenase deficiency. This rare metabolic disorder can impact brain development and function, but early detection through our comprehensive PHGDH gene test provides the answers you need to move forward with confidence.
What This Test Reveals About Your Genetic Health
The PHGDH gene test uses Next-Generation Sequencing (NGS) technology to examine the PHGDH gene for mutations that cause phosphoglycerate dehydrogenase deficiency. This condition affects the body’s ability to produce certain amino acids essential for brain development and function. Our test provides precise, reliable results that help identify this rare disorder, giving you and your healthcare provider the information needed for proper management and care planning.
Who Should Consider This Important Genetic Test?
This test is particularly important if you or your family members experience:
- Unexplained developmental delays in infants or children
- Neurological symptoms without clear diagnosis
- Family history of metabolic disorders
- Unexplained seizures or movement disorders
- Developmental regression in early childhood
Early detection can make a significant difference in managing this condition and improving quality of life outcomes.
Why Early Detection Matters for Your Family’s Health
Getting tested provides multiple important benefits:
- Peace of Mind: Eliminate uncertainty about genetic risks
- Early Intervention: Enable timely treatment and management strategies
- Family Planning: Make informed decisions about future pregnancies
- Accurate Diagnosis: End the diagnostic odyssey with clear answers
- Personalised Care: Develop targeted healthcare plans based on your genetic profile
Understanding Your Test Results with Professional Support
We know that waiting for genetic test results can be stressful. That’s why we include comprehensive genetic counselling as part of your testing process. Our qualified genetic counsellors will:
- Help you understand what the test can and cannot reveal
- Explain your results in clear, understandable language
- Discuss what your results mean for you and your family
- Provide guidance on next steps and available resources
- Offer emotional support throughout the process
Your results will be available within 3-4 weeks, and we’ll guide you through every step of understanding them.
Transparent Pricing and Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| PHGDH Gene Test with Genetic Counselling | ZAR 6,700 | ZAR 2,650 |
Price includes comprehensive genetic counselling, NGS testing, and detailed results interpretation.
Why Thousands of South Africans Trust Oracle Genomics
We’ve built our reputation on accuracy, compassion, and accessibility:
- Nationwide Coverage: Available across South Africa including Johannesburg, Cape Town, Durban, and Pretoria
- Medical Expertise: Tests supervised by qualified genetic specialists
- Advanced Technology: State-of-the-art NGS testing for maximum accuracy
- Patient-First Approach: We prioritise your comfort and understanding
- Proven Track Record: Thousands of successful tests completed nationwide
Take the First Step Toward Genetic Clarity Today
Don’t let uncertainty about genetic health concerns control your life. Our PHGDH gene test provides the answers you need to make informed healthcare decisions. With our special pricing of ZAR 6,700 and comprehensive support throughout the process, there’s never been a better time to take control of your genetic health.
Limited Time Offer: This special pricing of ZAR 6,700 (regularly ZAR 9,350) won’t last forever. Book your test today to secure this exceptional value and take the first step toward peace of mind.
Simple Sample Collection Process
We make testing convenient with multiple sample options: Blood draw, Extracted DNA, or One drop of Blood on FTA Card. Our trained professionals ensure a comfortable experience, and we provide clear instructions for any at-home collection options.

