Bartter Syndrome is a rare inherited renal disorder, characterized by defects in the kidney’s ability to reabsorb sodium. Among its various types, Bartter Syndrome Type 3, caused by mutations in the CLCNKB gene, is notable for its impact on electrolyte balance, leading to a range of clinical symptoms. DNA Labs UAE offers a comprehensive genetic test for diagnosing Bartter Syndrome Type 3, which is pivotal for early detection and management of the condition. The cost of the CLCNKB Gene Bartter Syndrome Type 3 Genetic Test is 4400 AED. For more information, visit DNA Labs UAE.
Symptoms of CLCNKB Gene Bartter Syndrome Type 3
Bartter Syndrome Type 3 manifests with several symptoms that typically arise in childhood, although early infancy or later life onset is also possible. Recognizing these symptoms early can be crucial for timely intervention and management. The primary symptoms include:
- Polyuria and Polydipsia: Excessive urination and thirst due to the body’s inability to reabsorb sodium and water effectively.
- Failure to Thrive: Children with Bartter Syndrome Type 3 may show poor growth and development compared to their peers.
- Chronic Dehydration: Persistent loss of fluids can lead to dehydration, requiring frequent electrolyte and fluid replacement.
- Hypokalemia: A significant drop in potassium levels, which can cause muscle weakness, cramps, and fatigue.
- Metabolic Alkalosis: An imbalance in the body’s acid-base levels, leading to a higher than normal blood pH.
- Hypercalciuria: Elevated levels of calcium in the urine, which can increase the risk of kidney stones and nephrocalcinosis.
These symptoms, resulting from the defective chloride channels in the kidney, underscore the complex nature of Bartter Syndrome Type 3. It’s important to note that the severity and combination of symptoms can vary significantly among affected individuals.
Importance of Genetic Testing for Bartter Syndrome Type 3
Genetic testing plays a crucial role in the diagnosis and management of Bartter Syndrome Type 3. By identifying mutations in the CLCNKB gene, the test offers conclusive evidence of the disorder, facilitating early and accurate diagnosis. This is particularly important for initiating appropriate treatment strategies to manage symptoms and prevent complications. Moreover, genetic testing can provide valuable information for family planning and genetic counseling for affected families.
Understanding the Test and Its Cost
The CLCNKB Gene Bartter Syndrome Type 3 Genetic Test offered by DNA Labs UAE is a comprehensive analysis designed to detect mutations in the CLCNKB gene. The test involves collecting a simple blood sample, followed by sophisticated genetic analysis to identify any mutations associated with the syndrome. The cost of the test is 4400 AED, a worthwhile investment for families seeking clarity on this condition. Early diagnosis can significantly improve the quality of life for individuals with Bartter Syndrome Type 3 by enabling tailored treatment and management plans.
For more details on the CLCNKB Gene Bartter Syndrome Type 3 Genetic Test and to schedule your test, please visit DNA Labs UAE. Our dedicated team is committed to providing accurate and comprehensive genetic testing services to help manage and understand Bartter Syndrome Type 3.
