Agammaglobulinemia type 7 is a rare genetic disorder that affects the immune system. It is caused by mutations in the PIK3R1 gene, leading to a deficiency in B lymphocytes, which are crucial for producing antibodies. This condition results in a higher susceptibility to infections. Understanding the symptoms and undergoing genetic testing for this condition can provide valuable insights for managing and treating it effectively. DNA Labs UAE offers a comprehensive genetic test for diagnosing Agammaglobulinemia type 7, which is crucial for individuals showing symptoms of this genetic disorder.
Symptoms of PIK3R1 Gene Agammaglobulinemia Type 7 Autosomal Recessive
Agammaglobulinemia type 7, caused by mutations in the PIK3R1 gene, presents a range of symptoms associated with a weakened immune system. These symptoms typically manifest in early childhood and may include:
- Recurrent bacterial infections, such as sinusitis, otitis media, and pneumonia.
- Delayed growth and development due to frequent illnesses.
- Chronic diarrhea, which may be a sign of gastrointestinal infections.
- Autoimmune disorders, as the immune system may mistakenly attack the body’s own cells.
- Skin infections, which can be more severe and recurrent.
- An increased risk of developing certain types of cancers, particularly those affecting the lymphoid system.
It’s crucial for individuals exhibiting these symptoms, especially if there is a family history of immune system disorders, to consider genetic testing for Agammaglobulinemia type 7.
Understanding the PIK3R1 Gene Agammaglobulinemia Type 7 Autosomal Recessive Genetic Test
The genetic test for Agammaglobulinemia type 7 offered by DNA Labs UAE is designed to identify mutations in the PIK3R1 gene. This test involves a simple blood draw or a buccal swab, making it a non-invasive procedure. The sample is then analyzed in the laboratory to detect any genetic abnormalities that may indicate the presence of Agammaglobulinemia type 7.
This test is not only crucial for diagnosis but also for guiding treatment decisions. Knowing the specific genetic mutation allows healthcare providers to tailor treatment plans to the individual’s needs, potentially improving outcomes and quality of life.
Cost of the Genetic Test
The cost of the PIK3R1 gene Agammaglobulinemia type 7 autosomal recessive genetic test at DNA Labs UAE is 4400 AED. This cost reflects the comprehensive nature of the test, including the analysis of the PIK3R1 gene for specific mutations associated with the condition.
While the cost may seem high, it’s important to consider the value of an accurate diagnosis. An early and precise diagnosis can lead to more effective management of the condition, potentially reducing the risk of severe infections and other complications.
Conclusion
Agammaglobulinemia type 7 is a serious condition that requires prompt and accurate diagnosis. The symptoms associated with this disorder, stemming from mutations in the PIK3R1 gene, can significantly impact an individual’s quality of life. DNA Labs UAE offers a genetic test specifically designed to diagnose this condition, providing essential information for managing and treating it effectively. If you or a loved one are experiencing symptoms of Agammaglobulinemia type 7, consider taking the genetic test. For more information, visit DNA Labs UAE.
