Nephronophthisis (NPHP) is a genetic disorder that primarily affects the kidneys. It is the most common genetic cause of chronic kidney disease in children and young adults. NPHP Type 12, specifically, is caused by mutations in the TTC21B gene. Understanding the symptoms and getting a timely diagnosis can significantly impact the management and outcome of the disease. DNA Labs UAE offers a comprehensive genetic test for TTC21B Gene Nephronophthisis Type 12, aiming to provide crucial information for affected individuals and their families.
The symptoms of NPHP Type 12 can vary but often include a range of signs indicative of kidney dysfunction. Early detection and diagnosis through genetic testing can be pivotal in managing the condition effectively. The cost of the TTC21B Gene Nephronophthisis Type 12 Genetic Test at DNA Labs UAE is 4400 AED, a critical investment towards understanding and managing this genetic disorder.
Symptoms of NPHP Type 12
Recognizing the symptoms of NPHP Type 12 is essential for early diagnosis and treatment. The symptoms often develop gradually and can be subtle in the early stages. Key symptoms include:
- Polyuria and Polydipsia: Increased urine output and excessive thirst are common initial signs, resulting from the kidneys’ inability to concentrate urine.
- Secondary Enuresis: Children previously toilet trained may start wetting the bed again due to the kidney’s reduced concentrating ability.
- Chronic Kidney Disease: Progressive loss of kidney function can lead to waste accumulation in the body, manifesting as fatigue, nausea, vomiting, and stunted growth in children.
- Anemia: Reduced erythropoietin production by the damaged kidneys can cause anemia, leading to pallor and additional fatigue.
- Bone Disorders: Disturbances in phosphate and calcium homeostasis can result in bone pain and deformities.
Importance of Genetic Testing for NPHP Type 12
Genetic testing for NPHP Type 12 through the TTC21B gene is crucial for several reasons. Firstly, it provides a definitive diagnosis, distinguishing NPHP Type 12 from other similar kidney diseases and conditions. This clarity is essential for targeted treatment and management. Secondly, understanding the genetic basis of the disease can help in assessing the risk for other family members. Finally, genetic testing can inform about the progression of the disease and potential complications, aiding in comprehensive care planning.
Cost and Accessibility of the Test
The cost of the TTC21B Gene Nephronophthisis Type 12 Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, it is important to consider the value of the information it provides. Early diagnosis and intervention can prevent or mitigate severe complications, potentially saving on future healthcare costs. DNA Labs UAE is committed to making genetic testing accessible and provides detailed information and support throughout the testing process.
For more information on the TTC21B Gene Nephronophthisis Type 12 Genetic Test and to schedule a test, please visit https://dnalabsuae.com/tests/ttc21b-gene-nephronophthisis-type-12-genetic-test/.
Conclusion
Nephronophthisis Type 12 is a serious genetic condition that, if left undiagnosed and untreated, can lead to significant health complications. Recognizing the symptoms early and opting for genetic testing can make a substantial difference in the management of the disease. DNA Labs UAE offers a comprehensive genetic test for TTC21B Gene Nephronophthisis Type 12, providing invaluable information for affected individuals and their families. With the test cost at 4400 AED, it represents a crucial step towards understanding and managing this condition effectively.
