Severe Combined Immunodeficiency (SCID) represents a group of rare disorders caused by mutations in genes that are essential for the development and function of infection-fighting immune cells. Among these genetic conditions is a particularly complex form caused by mutations in the NHEJ1 gene. This form of SCID is not only marked by a compromised immune system but is also associated with microcephaly, growth retardation, and an increased sensitivity to ionizing radiation. Understanding the symptoms of this genetic disorder is crucial for early diagnosis and treatment, which can significantly improve the quality of life for affected individuals.
Symptoms of NHEJ1 Gene Severe Combined Immunodeficiency
The symptoms of NHEJ1 gene SCID can be diverse, affecting multiple systems within the body. One of the primary symptoms is a severely weakened immune system, which makes patients highly susceptible to recurrent infections, including pneumonia, meningitis, and bloodstream infections. These infections are often more severe and difficult to treat than in individuals with a normal immune system.
Microcephaly, a condition where the head circumference is smaller than normal for an infant’s size and sex, is another hallmark of this disorder. This condition is indicative of reduced brain growth and can be associated with developmental delays and intellectual disability.
Growth retardation is also commonly observed in individuals with NHEJ1 gene SCID. This refers to a significantly slower rate of growth, both in terms of height and weight, compared to children of the same age and sex. This can result in delayed developmental milestones and can affect overall health and well-being.
Additionally, patients with this form of SCID have an increased sensitivity to ionizing radiation, which can lead to further complications, especially if not recognized early. This sensitivity necessitates careful consideration and adjustment of medical imaging and treatment protocols to avoid unnecessary exposure to radiation.
Genetic Test for NHEJ1 Gene SCID
Early detection and diagnosis of NHEJ1 gene SCID are crucial for effective management and treatment of the condition. At DNA Labs UAE, we offer a comprehensive genetic test specifically designed to identify mutations in the NHEJ1 gene. This test is a valuable tool for families with a history of SCID or for newborns who present symptoms indicative of this disorder.
The test involves a simple blood draw or cheek swab from the patient. The sample is then analyzed in our state-of-the-art laboratory, where our team of experts uses the latest genetic sequencing technologies to detect the presence of mutations in the NHEJ1 gene. The results of this test can provide essential information for the diagnosis, treatment planning, and genetic counseling for affected families.
The cost of the NHEJ1 gene SCID genetic test is 4400 AED. While the cost may seem significant, the value of the information it provides cannot be overstated. Early diagnosis can lead to timely interventions that can dramatically improve the health outcomes and quality of life for individuals with this condition.
For more information about the NHEJ1 gene SCID genetic test, or to schedule a test, please visit our website at DNA Labs UAE.
Conclusion
NHEJ1 gene SCID is a complex condition that poses significant challenges to affected individuals and their families. Understanding the symptoms and availing of the genetic test can lead to early diagnosis, which is key to managing the condition effectively. At DNA Labs UAE, we are committed to providing accurate and timely genetic testing services to help families navigate the complexities of genetic disorders like NHEJ1 gene SCID. Our team of experts is here to support you every step of the way, from testing to interpretation of results and beyond.
