Symptoms of SLC2A9 Gene Hypouricemia Renal Type 2
The SLC2A9 gene plays a crucial role in uric acid regulation within the human body. Mutations in this gene can lead to a condition known as Hypouricemia Renal Type 2, a rare disorder characterized by abnormally low levels of uric acid in the blood. This condition can manifest through various symptoms, significantly impacting an individual’s health. Recognizing these symptoms early is vital for timely diagnosis and management.
Key Symptoms of Hypouricemia Renal Type 2
Individuals with mutations in the SLC2A9 gene may experience a range of symptoms, including:
- Recurrent Kidney Stones: One of the most common symptoms associated with Hypouricemia Renal Type 2 is the recurrent formation of kidney stones, which can cause severe pain and discomfort.
- Acute Kidney Injury: The condition can lead to episodes of acute kidney injury, especially in situations of dehydration or reduced blood flow to the kidneys.
- Exercise-induced Acute Renal Failure: Some individuals may experience acute renal failure triggered by intense physical activity, due to the kidneys’ inability to cope with the increased metabolic demands.
- Reduced Uric Acid Levels: Significantly reduced uric acid levels in the blood are a hallmark of this condition, often detected through routine blood tests.
- Gout: Surprisingly, despite low serum uric acid levels, some patients may still develop gout, a form of arthritis characterized by sudden, severe attacks of pain, redness, and tenderness in joints.
Genetic Testing for SLC2A9 Gene Mutations
Genetic testing for mutations in the SLC2A9 gene is crucial for the accurate diagnosis of Hypouricemia Renal Type 2. DNA Labs UAE offers a comprehensive SLC2A9 Gene Hypouricemia Renal Type 2 Genetic Test, designed to identify mutations in the SLC2A9 gene that are responsible for this condition. Early detection through genetic testing can facilitate timely intervention, potentially preventing the progression of symptoms and improving the quality of life for affected individuals.
Cost of the Genetic Test
The cost of the SLC2A9 Gene Hypouricemia Renal Type 2 Genetic Test at DNA Labs UAE is 4400 AED. This investment in your health allows for a comprehensive analysis of the SLC2A9 gene, providing crucial information for diagnosis and management of Hypouricemia Renal Type 2. Understanding your genetic makeup can empower you with the knowledge to make informed decisions about your health and treatment options.
For more information on the test and to schedule an appointment, please visit our website: https://dnalabsuae.com/tests/slc2a9-gene-hypouricemia-renal-type-2-genetic-test/.
Recognizing the symptoms of Hypouricemia Renal Type 2 and opting for genetic testing can be the first steps towards managing this condition effectively. DNA Labs UAE is committed to providing high-quality genetic testing services to help you understand your health better and take proactive steps towards maintaining it.