Nephronophthisis (NPHP) is a genetically heterogeneous group of chronic kidney disorders, classified as a form of ciliopathy. The condition primarily affects the kidneys, leading to fibrosis and kidney failure, typically by adolescence or early adulthood. Among the various genes implicated in NPHP, CEP164 plays a crucial role in the development of Nephronophthisis type 15, a rare but significant form of the disease. DNA Labs UAE offers a comprehensive genetic test for the CEP164 gene, providing essential insights into this condition.
Understanding the symptoms of Nephronophthisis type 15 is vital for early diagnosis and management. The primary symptoms associated with this condition include:
- Polyuria and polydipsia: Excessive urine output and increased thirst due to impaired kidney concentration ability.
- Secondary enuresis: New onset of bedwetting in a previously toilet-trained child.
- Fatigue and weakness: Resulting from anemia and electrolyte imbalances.
- Growth retardation: Poor growth in height and weight due to chronic kidney disease.
- Progressive renal insufficiency: Gradual decline in kidney function, leading to end-stage renal disease (ESRD).
In addition to the primary renal symptoms, individuals with Nephronophthisis type 15 may exhibit extra-renal manifestations, including retinal degeneration, liver fibrosis, and neurological symptoms, reflecting the systemic nature of ciliopathies.
The genetic test for the CEP164 gene offered by DNA Labs UAE is a powerful tool in the diagnostic process for Nephronophthisis type 15. By identifying mutations in the CEP164 gene, this test can confirm a diagnosis, inform treatment strategies, and provide valuable information for family planning. The cost of the test is 4400 AED, an investment in understanding the genetic underpinnings of the disease and facilitating personalized care for affected individuals.
For more information on the CEP164 gene Nephronophthisis type 15 genetic test, including how to order the test and prepare for it, please visit DNA Labs UAE.
Early diagnosis and intervention are critical in managing Nephronophthisis type 15. With advancements in genetic testing, such as the CEP164 gene test, patients and their families can gain a clearer understanding of their condition, leading to better-informed decisions about their health and future. DNA Labs UAE is at the forefront of genetic diagnostics, offering cutting-edge tests to help unravel the complexities of genetic kidney diseases and support patients in their journey towards better health.
