The RAG2 gene plays a crucial role in the immune system, facilitating the development of T and B cells, which are essential for the body’s defense against pathogens. A mutation in this gene can lead to a complex condition known as Combined Cellular and Humoral Immune Defects with Granulomas. This rare genetic disorder impacts the body’s ability to fight infections effectively, leading to a range of symptoms that can significantly affect an individual’s quality of life. Recognizing these symptoms early can lead to timely intervention and management of the condition. At DNA Labs UAE, we offer a comprehensive genetic test for diagnosing this condition, ensuring that individuals and families have access to crucial information for managing their health.
Symptoms of Combined Cellular and Humoral Immune Defects with Granulomas
The symptoms of this genetic disorder can vary significantly from one individual to another, but some common signs may indicate the presence of this condition. Understanding these symptoms is crucial for early detection and management.
- Recurrent Infections: Individuals with this condition often experience frequent and severe infections that can affect various parts of the body, including the skin, respiratory system, and gastrointestinal tract. These infections are typically more severe than those encountered by individuals with a normal immune system.
- Granuloma Formation: Granulomas are small areas of inflammation that can occur in any part of the body, including the lungs, liver, and skin. They are a hallmark of this condition and can cause a range of symptoms depending on their location.
- Failure to Thrive: Children with this genetic disorder may experience growth delays or failure to thrive due to the chronic infections and immune system dysfunction.
- Autoimmune Disorders: The immune system dysfunction associated with this condition can lead to the development of autoimmune disorders, where the body’s immune system attacks its own tissues and organs.
Diagnosing Combined Cellular and Humoral Immune Defects with Granulomas
Diagnosing this condition involves a comprehensive evaluation, including a detailed medical history, physical examination, and specialized genetic testing. At DNA Labs UAE, we offer a specific genetic test for the RAG2 gene mutation, which is crucial for confirming the diagnosis of Combined Cellular and Humoral Immune Defects with Granulomas. This test is particularly important for families with a history of the condition or for individuals presenting with the symptoms described above.
Genetic Test Cost and Procedure
The cost of the RAG2 gene combined cellular and humoral immune defects with granulomas genetic test at DNA Labs UAE is 4400 AED. The test involves collecting a small sample of blood or saliva from the individual. This sample is then analyzed in our state-of-the-art laboratory to identify any mutations in the RAG2 gene. The results of this test can provide valuable information for the management and treatment of the condition, offering individuals and their families a clearer understanding of the disorder and how to best manage it.
Conclusion
Combined Cellular and Humoral Immune Defects with Granulomas is a complex condition that requires early detection and comprehensive management to improve the quality of life for affected individuals. Recognizing the symptoms early and undergoing genetic testing can provide crucial information for managing this condition. At DNA Labs UAE, we are committed to providing accessible and accurate genetic testing services, including the RAG2 gene test, to help individuals and families navigate the challenges associated with this disorder. For more information about the test and how to proceed, please visit our website at https://dnalabsuae.com/tests/rag2-gene-combined-cellular-and-humoral-immune-defects-with-granulomas-genetic-test/.
