Nephronophthisis (NPHP) is a genetic disorder that affects the kidneys, leading to their progressive dysfunction. It is the most common genetic cause of end-stage renal disease (ESRD) in children and young adults. Among the various types of NPHP, Type 14, caused by mutations in the ZNF423 gene, is a significant concern due to its autosomal recessive inheritance pattern. Understanding the symptoms and undergoing timely genetic testing can play a crucial role in managing this condition. DNA Labs UAE offers a comprehensive genetic test for the ZNF423 gene to help diagnose Nephronophthisis Type 14. This article provides detailed insights into the symptoms of ZNF423 gene Nephronophthisis Type 14 and the genetic test available at DNA Labs UAE, including its cost.
Symptoms of ZNF423 Gene Nephronophthisis Type 14
Nephronophthisis Type 14, caused by mutations in the ZNF423 gene, manifests through various symptoms, reflecting the progressive loss of kidney function. These symptoms often develop gradually and can be subtle in the early stages, making early diagnosis challenging. Key symptoms include:
- Polyuria and polydipsia: Excessive urination and thirst due to the kidneys’ inability to concentrate urine.
- Secondary enuresis: New onset of bedwetting in a previously toilet-trained child.
- Fatigue and weakness: Resulting from anemia and the accumulation of waste products in the blood.
- Growth retardation: Poor growth in children due to chronic kidney disease.
- Urinary concentration defects: Leading to dehydration and electrolyte imbalances.
It’s important to note that these symptoms can vary from person to person and may resemble those of other conditions, making genetic testing a critical step in the diagnosis of Nephronophthisis Type 14.
Genetic Test for ZNF423 Gene Nephronophthisis Type 14 at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test for diagnosing Nephronophthisis Type 14, caused by mutations in the ZNF423 gene. This test is crucial for confirming the diagnosis, understanding the disease’s progression, and planning appropriate management strategies. The test involves analyzing the patient’s DNA to identify mutations in the ZNF423 gene that are known to cause the condition. It is a comprehensive test that provides accurate and reliable results, aiding in the early detection and management of the disease.
Test Cost
The cost of the ZNF423 gene Nephronophthisis Type 14 genetic test at DNA Labs UAE is 4400 AED. This price includes the full analysis of the ZNF423 gene for mutations associated with the condition. Considering the comprehensive nature of this test and its significance in diagnosing and managing Nephronophthisis Type 14, the cost represents a valuable investment in health and well-being.
Conclusion
Nephronophthisis Type 14 is a challenging condition that requires early diagnosis and management to mitigate its impact on the kidneys and overall health. The symptoms can be subtle and progress slowly, making genetic testing an essential tool for accurate diagnosis. DNA Labs UAE provides a specialized genetic test for the ZNF423 gene, offering hope and guidance for individuals and families affected by Nephronophthisis Type 14. For more information and to schedule a test, visit DNA Labs UAE.
