Galactosialidosis is a rare genetic disorder that affects multiple organ systems within the body. It is caused by mutations in the CTSA gene, which leads to a deficiency of the protective lysosomal enzyme, cathepsin A. This enzyme deficiency results in the accumulation of certain complex compounds in the body’s cells, leading to the symptoms associated with the condition. Recognizing the symptoms early can be crucial for managing the condition and improving the quality of life for those affected. DNA Labs UAE offers a comprehensive CTSA Gene Galactosialidosis Genetic Test, priced at 4400 AED, to help in the early detection and management of this condition. For more information, please visit our website.
Symptoms of Galactosialidosis
The symptoms of Galactosialidosis vary widely among affected individuals, ranging from mild to severe, and are categorized into three main types based on the age of onset and severity of symptoms: early infantile, late infantile, and juvenile/adult form.
- Early Infantile Form: This form is the most severe and rare. Symptoms can appear shortly after birth and include hydrops fetalis (an abnormal accumulation of fluid in two or more fetal compartments), hepatosplenomegaly (enlargement of the liver and spleen), ascites (accumulation of fluid in the peritoneal cavity), and severe neurological impairment.
- Late Infantile Form: Symptoms usually begin between ages three and four. Children may experience growth delays, coarse facial features, cherry-red spots in the eyes, seizures, ataxia (lack of muscle control), and intellectual disability.
- Juvenile/Adult Form: This form is characterized by a later onset and milder symptoms, including myoclonus (involuntary muscle twitching), ataxia, angiokeratoma (small, dark red spots on the skin), mild intellectual disability, and cataracts.
It’s important to note that the progression and severity of symptoms can vary significantly from one individual to another. Early diagnosis through genetic testing can provide valuable information for managing the condition more effectively.
CTSA Gene Galactosialidosis Genetic Test
DNA Labs UAE offers a genetic test for Galactosialidosis that targets mutations in the CTSA gene. The test is priced at 4400 AED and is a crucial step in confirming the diagnosis of Galactosialidosis. Early diagnosis through genetic testing can help in planning the appropriate management strategies and in providing genetic counseling for affected families.
The genetic test involves collecting a small sample of blood or saliva from the patient. The sample is then analyzed in the laboratory to detect mutations in the CTSA gene that are associated with Galactosialidosis. The results of the test can help in determining the specific type of Galactosialidosis and in guiding treatment and management decisions.
Why Choose DNA Labs UAE?
DNA Labs UAE is committed to providing accurate, reliable, and timely genetic testing services. Our state-of-the-art laboratory is equipped with the latest technology, and our team of experts is dedicated to delivering high-quality results. We understand the importance of genetic testing in diagnosing and managing genetic disorders, and we strive to make our services accessible and affordable.
For more information about the CTSA Gene Galactosialidosis Genetic Test and other services we offer, please visit our website. We are here to support you in your journey towards better health and well-being.
Remember, early detection is key in managing genetic conditions effectively. If you or a loved one is experiencing symptoms associated with Galactosialidosis, consider speaking to your healthcare provider about the possibility of genetic testing. DNA Labs UAE is here to assist you with all your genetic testing needs.
