SLC12A1 Gene Bartter Syndrome Type 1 NGS Genetic DNA Test
Introduction
The SLC12A1 Gene Bartter Syndrome Type 1 NGS Genetic DNA Test is a critical diagnostic tool for identifying Bartter syndrome, a rare genetic disorder that affects kidney function. This syndrome is characterized by a group of symptoms including electrolyte imbalances, dehydration, and growth issues in children. The test employs Next Generation Sequencing (NGS) technology, which allows for a comprehensive analysis of the SLC12A1 gene, providing accurate results that can guide effective treatment options.
What the Test Measures
This genetic test specifically detects mutations in the SLC12A1 gene, which is responsible for coding a protein that plays a vital role in kidney function. By identifying these mutations, healthcare providers can better understand the underlying causes of Bartter syndrome in affected individuals.
Who Should Consider This Test?
Individuals who may benefit from the SLC12A1 Gene Bartter Syndrome Type 1 NGS Genetic DNA Test include:
- Patients exhibiting symptoms of Bartter syndrome, such as excessive thirst, dehydration, and electrolyte imbalances.
- Individuals with a family history of kidney disorders or genetic conditions related to nephrology.
- Patients with unexplained growth issues or metabolic disturbances.
Benefits of Taking the Test
Undergoing the SLC12A1 Gene Bartter Syndrome Type 1 NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of Bartter syndrome, allowing for timely intervention and management.
- Identification of genetic mutations that can inform treatment decisions.
- Potential for family planning and genetic counseling for affected families.
- Access to specialized care from general physicians and geneticists.
Understanding Your Results
Results from the SLC12A1 Gene Bartter Syndrome Type 1 NGS Genetic DNA Test are typically available within 3 to 4 weeks. A positive result indicates the presence of mutations in the SLC12A1 gene, which can confirm a diagnosis of Bartter syndrome. Healthcare providers will offer guidance on the implications of the results and discuss potential management strategies.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SLC12A1 Gene Bartter Syndrome Type 1 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Convenient Access Across Kenya
We have branches in all major cities in Kenya, including Nairobi, Mombasa, Kisumu, and more. For your convenience, we also offer home sample collection services. To book the SLC12A1 Gene Bartter Syndrome Type 1 NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
Pre-Test Instructions
Before taking the test, patients are advised to undergo a genetic counseling session to draw a pedigree chart of family members affected by Bartter syndrome. A detailed clinical history will also be required to ensure accurate testing.
