Omenn Syndrome is a rare autosomal recessive severe combined immunodeficiency disorder. It is characterized by the onset of various symptoms early in infancy, which if not diagnosed and treated timely, can lead to severe complications. The DCLRE1C gene, also known as the Artemis gene, plays a crucial role in the V(D)J recombination process which is essential for the development of the immune system. Mutations in the DCLRE1C gene lead to Omenn Syndrome. Understanding the symptoms and undergoing genetic testing for Omenn Syndrome can be critical in managing and treating the condition effectively.
Symptoms of Omenn Syndrome
Omenn Syndrome presents a range of symptoms that are primarily related to immune system dysfunction. The most common symptoms include:
- Severe combined immunodeficiency
- Erythroderma, which is a severe and widespread red rash
- Desquamation, or shedding of the outer layers of the skin
- Alopecia, or hair loss
- Chronic diarrhea
- Failure to thrive in infancy
- Lymphadenopathy, or swollen lymph nodes
- Hepatosplenomegaly, which is the enlargement of the liver and spleen
- Recurrent infections, including respiratory and skin infections
These symptoms are indicative of a severely compromised immune system, making it crucial for individuals showing these signs to undergo genetic testing for Omenn Syndrome.
Genetic Testing for Omenn Syndrome
Genetic testing for Omenn Syndrome involves analyzing the DCLRE1C gene for mutations. This test is crucial for confirming the diagnosis of Omenn Syndrome and is essential for guiding treatment decisions. Early diagnosis through genetic testing can significantly improve the outcome for affected individuals by enabling timely interventions and management strategies.
The DCLRE1C Gene Omenn Syndrome Genetic Test offered by DNA Labs UAE is a comprehensive test that screens for mutations in the DCLRE1C gene. The test is performed using a blood sample, making it a minimally invasive procedure.
Test Cost
The cost of the DCLRE1C Gene Omenn Syndrome Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, it is crucial to consider the importance of early diagnosis and the potential for improved health outcomes and quality of life for those affected by Omenn Syndrome.
Conclusion
Omenn Syndrome is a serious condition that requires early diagnosis and intervention. Recognizing the symptoms and undergoing genetic testing for mutations in the DCLRE1C gene is critical for individuals who may be affected. DNA Labs UAE offers a comprehensive genetic test for Omenn Syndrome, providing families and healthcare providers with crucial information for managing the condition. Although the cost of the test is 4400 AED, the value it provides in terms of early diagnosis and potential for a better outcome is immeasurable.
For more information on the DCLRE1C Gene Omenn Syndrome Genetic Test and to schedule a test, please visit DNA Labs UAE.
