Understanding SCNN1A Gene Pseudohypoaldosteronism Type 1
When your body struggles to maintain proper salt and fluid balance, it can feel overwhelming and confusing. Pseudohypoaldosteronism type 1 is a rare genetic condition where the kidneys cannot properly respond to aldosterone, leading to excessive salt loss and potential dehydration. Our SCNN1A gene test provides the clarity you need to understand what’s happening in your body or your child’s body.
What This Test Detects
This advanced Next-Generation Sequencing (NGS) test specifically examines the SCNN1A gene for mutations that cause autosomal recessive pseudohypoaldosteronism type 1. The SCNN1A gene provides instructions for making part of the epithelial sodium channel (ENaC), which is crucial for salt reabsorption in the kidneys. When this gene has mutations, the channels don’t function properly, leading to excessive salt loss despite normal aldosterone levels.
Who Should Consider This Test
This test is particularly important if you or your child experiences:
- Unexplained salt cravings or excessive salt consumption
- Recurrent dehydration despite adequate fluid intake
- Failure to thrive in infancy or childhood
- Electrolyte imbalances detected in blood tests
- Family history of similar salt-wasting symptoms
- Poor weight gain in infants with normal feeding
Why Early Detection Matters for Your Health
Identifying pseudohypoaldosteronism type 1 early can transform your health management. With accurate diagnosis:
- You can implement proper salt supplementation strategies
- Prevent dangerous electrolyte imbalances and dehydration episodes
- Reduce hospitalizations and emergency medical visits
- Provide appropriate genetic counselling for family planning
- Ensure proper growth and development in children
Understanding Your Test Results
Our genetic counsellors will help you understand your results in clear, compassionate terms. We explain:
- Whether SCNN1A gene mutations were detected
- The specific implications for your health management
- Recommended treatment and monitoring approaches
- Family testing considerations if mutations are found
- Long-term health planning strategies
Comprehensive Pricing and Value
| Service | Regular Price | Special Price |
|---|---|---|
| SCNN1A Gene Test | ZAR 9,350 | ZAR 6,700 |
| Turnaround Time | 3-4 Weeks | |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card | |
Nationwide Trust and Accessibility
Oracle Genomics brings professional genetic testing to patients across South Africa. With services available in Johannesburg, Cape Town, Durban, Pretoria, and nationwide, we ensure that quality genetic care is accessible to all South Africans. Our NGS technology provides the highest accuracy available, giving you peace of mind in your results.
Take Action for Your Health Today
Don’t let uncertainty about salt-wasting symptoms continue to affect your quality of life. Our genetic counselling session included with your test helps create a comprehensive family history and ensures you understand the testing process completely. Book your SCNN1A gene test today and take the first step toward understanding your genetic health with confidence and clarity.
Ready to Get Answers?
Contact us today to schedule your genetic counselling session and testing. Early detection means better management and improved quality of life.
