Omenn Syndrome is a rare genetic disorder that affects the immune system. It is considered a form of severe combined immunodeficiency (SCID), characterized by the body’s inability to effectively fight infections. This condition is caused by mutations in several genes, including the RAG1 and RAG2 genes. The symptoms of Omenn Syndrome can be severe and life-threatening, making early diagnosis and treatment essential for the affected individuals. DNA Labs UAE offers a comprehensive genetic test for Omenn Syndrome, specifically focusing on the RAG2 gene mutation, to aid in the diagnosis and management of this condition.
Symptoms of RAG2 Gene Omenn Syndrome
Omenn Syndrome presents a range of symptoms related to its impact on the immune system. Affected individuals typically show signs within the first few months of life. Key symptoms include:
- Severe combined immunodeficiency: This manifests as a heightened susceptibility to bacterial, viral, and fungal infections.
- Erythroderma: A widespread red rash that can be severe and is often one of the first signs of the syndrome.
- Desquamation: Peeling of the skin, which can lead to further complications and infections.
- Failure to thrive: Difficulty in gaining weight or growing at a normal rate, due to the body’s inability to absorb nutrients effectively amidst frequent infections.
- Alopecia: Partial or complete hair loss, which may occur as a result of the skin conditions or treatments.
- Hepatosplenomegaly: An enlargement of the liver and spleen caused by the immune system’s overactivity.
- Lymphadenopathy: Swollen lymph nodes, which are often a response to infection or inflammation.
- Eosinophilia: An elevated level of eosinophils, a type of white blood cell, which indicates an immune system in distress.
- High levels of Immunoglobulin E (IgE): An antibody typically associated with allergies and asthma, but in the case of Omenn Syndrome, it indicates an immune system disorder.
It’s important to note that the severity and combination of these symptoms can vary significantly from one individual to another. Early and accurate diagnosis through genetic testing is crucial in managing the condition effectively.
RAG2 Gene Omenn Syndrome Genetic Test at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test for the RAG2 gene mutation associated with Omenn Syndrome. This test is designed to identify mutations in the RAG2 gene that are known to cause the condition, providing essential information for accurate diagnosis and treatment planning. The test is performed using a blood sample, making it a relatively simple and minimally invasive procedure.
The cost of the RAG2 Gene Omenn Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This investment in health provides not only a diagnosis but also guides the treatment and management strategies for individuals affected by Omenn Syndrome. It is a crucial step towards improving the quality of life for those with this rare genetic disorder.
For more information about the RAG2 Gene Omenn Syndrome Genetic Test, or to schedule a test, please visit DNA Labs UAE.
Early diagnosis and treatment are key to managing Omenn Syndrome effectively. With advancements in genetic testing, such as the RAG2 Gene Omenn Syndrome Genetic Test offered by DNA Labs UAE, families have access to the information needed to understand and combat this challenging condition. By identifying the genetic cause, healthcare providers can tailor treatments to the individual’s needs, potentially improving outcomes and quality of life for those affected.
