Finding Answers for Your Baby’s Health: NR1H4 Gene Cholestasis Testing
When your infant shows signs of persistent jaundice, poor weight gain, or unusual stool colour, the uncertainty can be overwhelming. As parents in South Africa, you deserve clear answers about your baby’s liver health. Our NR1H4 Gene Cholestasis test provides the genetic clarity needed to understand and manage progressive familial intrahepatic cholestasis (PFIC) in infants.
Understanding the NR1H4 Gene Cholestasis Test
This specialised genetic test examines the NR1H4 gene, which plays a crucial role in bile acid metabolism. When this gene has mutations, it can lead to progressive familial intrahepatic cholestasis type 5 (PFIC5), a serious liver condition that typically appears in infancy. Our advanced Next-Generation Sequencing (NGS) technology provides comprehensive analysis of the NR1H4 gene, identifying even subtle genetic variations that could impact your child’s liver function.
We understand that genetic testing can seem complex, which is why our team provides clear explanations and genetic counselling to help you understand what the test involves and what the results mean for your family.
Who Should Consider This Test?
This test is particularly important for infants and families experiencing:
- Persistent jaundice beyond the newborn period
- Poor weight gain or failure to thrive in infancy
- Dark urine and pale, clay-coloured stools
- Itching (pruritus) that doesn’t respond to typical treatments
- Family history of liver disease in childhood
- Elevated liver enzymes without clear cause
- Suspected bile duct obstruction that has been ruled out
If your baby has been experiencing these symptoms, or if there’s a family history of similar conditions, this test can provide the answers you need to pursue appropriate treatment.
Why Early Detection Matters for Your Baby’s Health
Early genetic diagnosis of NR1H4-related cholestasis offers significant benefits:
- Targeted Treatment Planning: Knowing the specific genetic cause allows for personalised treatment approaches
- Prevention of Complications: Early intervention can help prevent liver damage and growth issues
- Family Planning Guidance: Understanding inheritance patterns helps with future family decisions
- Reduced Diagnostic Uncertainty: End the cycle of tests and uncertainty about your baby’s condition
- Access to Specialised Care: Genetic diagnosis often opens doors to specialised paediatric liver care
For South African families, having this testing available locally means you don’t need to travel abroad for advanced genetic diagnostics.
Understanding Your Test Results
We know waiting for genetic test results can be anxiety-provoking. Our team provides comprehensive support throughout the process:
- Clear Result Interpretation: We explain what your baby’s genetic results mean in practical terms
- Genetic Counselling: Included with your test to discuss implications for your family
- Next Steps Guidance: We help you understand what to do with the information
- Medical Referral Support: Connection to appropriate paediatric specialists if needed
Whether the results confirm NR1H4-related cholestasis or rule it out, you’ll have the clarity needed to move forward with confidence in your baby’s care.
Transparent Pricing for Peace of Mind
| Service | Regular Price | Special Price | Value |
|---|---|---|---|
| NR1H4 Gene Cholestasis Test | ZAR 6,700 | Save ZAR 2,650 | |
| Genetic Counselling Session | Included at no extra cost | ||
| Family Pedigree Analysis | Included in comprehensive service | ||
Turnaround Time: 3 to 4 weeks
Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
Why Trust Oracle Genomics?
As South Africa’s leading genetic testing provider, we bring world-class expertise to families across our nation:
- Nationwide Coverage: Accessible testing in Johannesburg, Cape Town, Durban, Pretoria and throughout South Africa
- Advanced NGS Technology: Using the same cutting-edge technology available internationally
- Expert Genetic Counsellors: South African professionals who understand our unique healthcare landscape
- Proven Accuracy: Rigorous quality control ensuring reliable results you can trust
- Local Understanding: Knowledge of South African genetic diversity and health concerns
Take the First Step Toward Clarity Today
Don’t let uncertainty about your baby’s health continue. Early genetic testing can provide the answers needed for proper management and peace of mind.
Limited Time Offer: This special pricing of ZAR 6,700 (regularly ZAR 9,350) won’t last forever. Secure your baby’s genetic health assessment today.
“The clarity we gained from this test changed everything for our family. Finally, we had answers and a path forward.” – Satisfied Parent, Cape Town
