Understanding Your Child’s Liver Health: AKR1D1 Gene Testing for Bile Acid Defects
As a parent, nothing matters more than your child’s health and wellbeing. When you notice persistent jaundice, poor growth, or digestive issues in your infant or young child, it’s natural to feel concerned and seek answers. Our AKR1D1 Gene Test provides the clarity you need to understand potential bile acid metabolism disorders, offering a pathway to proper management and treatment.
What This Test Detects
The AKR1D1 Gene Test examines your child’s DNA for mutations in the AKR1D1 gene, which is responsible for producing an enzyme crucial for bile acid synthesis. When this gene doesn’t function properly, it can lead to bile acid synthesis defect type 2 – a congenital condition where the body cannot produce normal bile acids. This deficiency can cause progressive liver damage, cholestasis (reduced bile flow), and serious health complications if left undiagnosed.
Using advanced Next Generation Sequencing (NGS) technology, we analyse the entire AKR1D1 gene with exceptional accuracy, identifying even the smallest genetic variations that could impact your child’s health.
Who Should Consider This Test
This test is particularly important if your child shows:
- Persistent jaundice beyond the newborn period
- Poor weight gain or failure to thrive
- Elevated liver enzymes or abnormal liver function tests
- Family history of bile acid metabolism disorders
- Unexplained liver disease in infancy or childhood
- Cholestatic liver disease symptoms
If you’ve been searching for answers about your child’s liver health concerns, this genetic test can provide the definitive diagnosis needed for proper treatment planning.
Why Early Detection Matters for Your Child’s Future
Early diagnosis of bile acid synthesis defects through genetic testing offers significant benefits:
- Prevent Progressive Liver Damage: Timely intervention can halt or slow liver deterioration
- Guide Proper Treatment: Specific therapies are available once the condition is confirmed
- Family Planning Insights: Understand inheritance patterns for future pregnancies
- Peace of Mind: Replace uncertainty with a clear management plan
- Improved Quality of Life: Proper management can lead to normal development and health
Understanding Your Results with Compassion
We understand that waiting for genetic test results can be an anxious time. Our comprehensive approach includes:
- Clear, Understandable Reports: Results presented in plain language with medical guidance
- Genetic Counselling Session: Included with your test to help interpret results and understand implications
- Family Pedigree Analysis: We map your family history to provide context for genetic findings
- Next Steps Guidance: Clear recommendations for follow-up care and specialist referrals
- Ongoing Support: Our team remains available to answer questions about your results
Whether the results confirm a diagnosis or provide reassurance, you’ll have the information and support needed to make informed healthcare decisions.
Transparent Pricing – Investing in Your Child’s Health
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| AKR1D1 Gene Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
Your investment includes: Comprehensive genetic analysis, genetic counselling session, family pedigree chart, detailed results report, and professional medical interpretation.
Consider this: Early detection could prevent costly hospitalisations and long-term liver damage treatment, making this test a valuable investment in your child’s future health.
Why South African Families Trust Oracle Genomics
- Nationwide Coverage: Accessible testing centres in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Advanced Technology: State-of-the-art NGS genetic testing with 99.9% accuracy
- Medical Expertise: Tests supervised by qualified general physicians and genetic specialists
- Rapid Turnaround: Results typically available within 3-4 weeks
- Simple Sample Collection: Only a blood sample required – comfortable for children
- Comprehensive Preparation: Includes clinical history assessment and genetic counselling
Take the First Step Toward Answers Today
Don’t let uncertainty about your child’s liver health continue. Early detection through genetic testing can make a life-changing difference. Our team is ready to provide the compassionate, professional care your family deserves.
Limited Time Special: Book now to secure the special price of ZAR 6,700 – saving ZAR 2,650 off the regular price. This offer includes your complete genetic testing package with professional support every step of the way.
“Early diagnosis transformed our daughter’s health journey. The genetic test gave us answers when nothing else could.” – Satisfied Parent, Johannesburg
Join the hundreds of South African families who have found clarity and peace of mind through Oracle Genomics genetic testing.
