Find Clarity About Rare Genetic Disorders with Our HSD17B4 Gene Test
When you’re worried about unexplained symptoms in your child or have a family history of rare metabolic conditions, the uncertainty can be overwhelming. Our HSD17B4 Gene D-Bifunctional Protein Deficiency Test provides the answers you need to make informed decisions about your family’s health journey. For just ZAR 6,700, gain peace of mind through advanced genetic testing technology.
Understanding the HSD17B4 Gene Test
This specialised test examines the HSD17B4 gene using Next-Generation Sequencing (NGS) technology – the gold standard in genetic analysis. The HSD17B4 gene provides instructions for making an enzyme called D-bifunctional protein, which is essential for breaking down certain fats in the body. When this gene has mutations, it can lead to D-bifunctional protein deficiency, a serious metabolic disorder that affects brain development and physical growth.
Our test doesn’t just give you a yes/no answer – it provides comprehensive information about specific genetic variations, helping your healthcare team understand the exact nature of any potential issues.
Who Should Consider This Test?
This test is particularly important if your child or family member experiences:
- Unexplained developmental delays or regression
- Muscle weakness or poor muscle tone (hypotonia)
- Seizures or neurological symptoms
- Vision or hearing problems
- Abnormal facial features associated with genetic disorders
- Family history of similar symptoms or confirmed genetic conditions
If you’re planning a pregnancy and have concerns about genetic risks, this test can provide valuable information for family planning decisions.
Why Early Detection Matters for Your Family’s Health
Getting answers through genetic testing can transform your family’s healthcare journey:
- Early Intervention: Identify conditions before severe symptoms develop, allowing for timely treatment and management
- Treatment Guidance: Help healthcare providers create targeted treatment plans based on specific genetic information
- Family Planning: Make informed decisions about future pregnancies with understanding of genetic risks
- Peace of Mind: Reduce uncertainty and anxiety by getting clear, accurate answers about genetic health
- Medical Management: Enable better coordination between specialists for comprehensive care
Understanding Your Test Results
We know waiting for genetic test results can be stressful. That’s why we provide:
- Clear Explanations: Your results come with easy-to-understand information about what they mean
- Genetic Counselling: Included in your test, our genetic counsellors help interpret results and discuss next steps
- Family Pedigree Analysis: We create a detailed family history chart to understand inheritance patterns
- Healthcare Team Coordination: We work with your doctors to ensure seamless integration of results into your care plan
- Ongoing Support: Access to resources and support for understanding and managing genetic conditions
Transparent Pricing – No Hidden Costs
| Service | Regular Price | Special Price |
|---|---|---|
| HSD17B4 Gene Test | ZAR 6,700 | |
| Genetic Counselling Session | INCLUDED | |
| Family Pedigree Analysis | INCLUDED | |
| Results Interpretation | INCLUDED | |
Consider the value: Early detection can prevent years of uncertainty and potentially reduce long-term healthcare costs significantly.
Why Thousands of South African Families Trust Oracle Genomics
- Nationwide Coverage: Accessible testing centres in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Advanced Technology: Using NGS – the most accurate genetic testing method available
- Expert Team: Genetic specialists with years of experience in paediatric genetic disorders
- Quick Turnaround: Results typically within 3-4 weeks from sample receipt
- Multiple Sample Options: Blood, extracted DNA, or simple blood spot on FTA card
- Comprehensive Support: From initial consultation through to results explanation and beyond
Take the First Step Toward Genetic Clarity Today
Don’t let uncertainty about genetic health concerns continue to weigh on your family. With our special pricing of ZAR 6,700, now is the time to get 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 information while this opportunity is available.
“Getting the HSD17B4 test gave our family the answers we needed after years of uncertainty. The genetic counselling helped us understand everything clearly.” – Recent Patient Family
