SLC12A1 Gene Bartter Syndrome Type 1 NGS Genetic DNA Test
Introduction
The SLC12A1 Gene Bartter Syndrome Type 1 NGS Genetic DNA Test is an essential diagnostic tool designed to identify genetic mutations associated with Bartter syndrome, a rare disorder characterized by kidney dysfunction. This test utilizes Next Generation Sequencing (NGS) technology to provide accurate and comprehensive results, enabling healthcare providers to better understand the genetic underpinnings of this condition.
What the Test Measures
This genetic test specifically measures mutations in the SLC12A1 gene, which plays a critical role in kidney function and electrolyte balance. By identifying these mutations, the test can confirm or rule out Bartter syndrome type 1 and guide appropriate management strategies.
Who Should Consider This Test
Individuals who experience symptoms such as:
- Excessive thirst and urination
- Dehydration and electrolyte imbalances
- Growth delays in children
- Muscle cramps
Additionally, those with a family history of Bartter syndrome or related nephrology and endocrinology disorders should consider this test to assess their genetic risk.
Benefits of Taking the Test
- Early and accurate diagnosis of Bartter syndrome type 1.
- Informed decision-making regarding treatment options.
- Understanding potential health risks for family members.
- Access to genetic counseling and support.
Understanding Your Results
Results from the SLC12A1 Gene Bartter Syndrome Type 1 NGS Genetic DNA Test will indicate whether any mutations were detected. A positive result confirms the presence of a mutation associated with Bartter syndrome, while a negative result suggests that the SLC12A1 gene is normal. It is important to discuss the results with a qualified healthcare provider to understand their implications fully.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
SLC12A1 Gene Bartter Syndrome Type 1 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book the Test
To book the SLC12A1 Gene Bartter Syndrome Type 1 NGS Genetic DNA Test, please call or WhatsApp us at +2348077798758. Our team is ready to assist you with scheduling and any inquiries you may have.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, it is recommended to have a genetic counseling session to discuss clinical history and draw a pedigree chart of affected family members.