Senior-Loken syndrome is a rare genetic disorder that affects the kidneys and eyes, leading to progressive loss of kidney function and a form of retinal degeneration known as Leber congenital amaurosis. One of the genes associated with this condition is CEP290, which, when mutated, can lead to Senior-Loken syndrome type 6. Understanding the symptoms of this disorder is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for the CEP290 gene to aid in the diagnosis of Senior-Loken syndrome type 6. The cost of the test is 4400 AED.
Symptoms of Senior-Loken Syndrome Type 6
Senior-Loken syndrome type 6 presents with a combination of renal and ocular symptoms. These symptoms can vary widely among individuals but typically include:
- Nephronophthisis: This kidney disease leads to chronic kidney failure. Symptoms may include increased urination, thirst, fatigue, and stunted growth.
- Retinal Dystrophy: Individuals may experience a progressive loss of vision, difficulty seeing at night (night blindness), and a loss of peripheral vision.
- Skeletal Abnormalities: In some cases, individuals may present with skeletal abnormalities such as bone cysts or irregular bone mineral density.
- Developmental Delay: Some affected individuals may experience developmental delays or intellectual disability, although this is less common.
Early identification of these symptoms is crucial for managing the condition and slowing the progression of kidney disease and vision loss.
CEP290 Gene Senior-Loken Syndrome Type 6 Genetic Test
DNA Labs UAE offers a genetic test specifically designed to identify mutations in the CEP290 gene, which is linked to Senior-Loken syndrome type 6. This test is a vital tool for families with a history of the condition or for individuals presenting with symptoms consistent with Senior-Loken syndrome. The test involves a simple blood draw or cheek swab and is priced at 4400 AED.
The genetic test not only helps in confirming the diagnosis but also assists in guiding treatment decisions and genetic counseling. It can provide valuable information for affected individuals and their families regarding the progression of the condition and potential interventions.
Why Choose DNA Labs UAE?
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a wide range of tests for various genetic conditions, including the CEP290 gene Senior-Loken syndrome type 6 genetic test. Our state-of-the-art laboratory is equipped with the latest technology, and our team of experts is committed to providing accurate and reliable results. By choosing DNA Labs UAE, you are ensuring that you receive the highest standard of care and support throughout the testing process.
For more information about the CEP290 gene Senior-Loken syndrome type 6 genetic test and to schedule your appointment, please visit our website.
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