Arterial Tortuosity Syndrome (ATS) is a rare genetic disorder characterized by the twisting and lengthening of arteries throughout the body. This condition can lead to numerous complications, including an increased risk of aneurysm, dissection, and stenosis of the arteries. The SLC2A10 gene has been identified as a crucial player in the development of ATS. Mutations in this gene disrupt the normal function of the GLUT10 transporter, leading to the clinical manifestations of the syndrome. Understanding the symptoms associated with SLC2A10 gene mutations is vital for early diagnosis and management of ATS. DNA Labs UAE offers a comprehensive genetic test for diagnosing ATS, providing essential information for affected individuals and their families.
Symptoms of SLC2A10 Gene Arterial Tortuosity Syndrome
Individuals with mutations in the SLC2A10 gene may exhibit a wide range of symptoms, some of which are present at birth, while others may develop over time. The most common signs and symptoms of Arterial Tortuosity Syndrome include:
- Visible twisting and lengthening of arteries, which can be detected through imaging studies.
- Increased propensity for the development of aneurysms, particularly in the aorta.
- Arterial stenosis, leading to restricted blood flow and potential complications in various organs.
- Pulmonary artery stenosis, which can cause breathing difficulties and decreased oxygenation.
- Skin abnormalities, such as soft, doughy skin that may bruise easily.
- Joint hypermobility, leading to frequent dislocations and chronic joint pain.
- Facial features that may include a high, arched palate, elongated face, and down-slanting eyes.
It is important to note that the severity and combination of these symptoms can vary significantly among individuals with ATS. Early detection and management are crucial in preventing serious complications associated with the condition.
SLC2A10 Gene Arterial Tortuosity Syndrome Genetic Test at DNA Labs UAE
DNA Labs UAE is at the forefront of genetic testing, offering a specific test for the SLC2A10 gene mutation associated with Arterial Tortuosity Syndrome. This test is designed to provide accurate and comprehensive results, aiding in the diagnosis and management of ATS. The genetic test involves a simple blood draw, and the sample is analyzed using advanced genomic technologies to detect mutations in the SLC2A10 gene.
The cost of the SLC2A10 Gene Arterial Tortuosity Syndrome Genetic Test is 3200 AED. This investment covers the test itself, the expertise of the geneticists analyzing the results, and a detailed report explaining the findings. For individuals showing symptoms of ATS or those with a family history of the condition, this test can be a critical step in managing their health.
For more information about the SLC2A10 Gene Arterial Tortuosity Syndrome Genetic Test and to schedule your appointment, please visit DNA Labs UAE. Our team of experts is dedicated to providing the highest quality care and support throughout the testing process.
Early diagnosis and intervention are key in managing Arterial Tortuosity Syndrome effectively. With the comprehensive genetic testing services offered by DNA Labs UAE, individuals and families affected by ATS can gain valuable insights into their condition, enabling informed decisions about their health and treatment options.
