Agammaglobulinemia type 1, also known as X-linked agammaglobulinemia (XLA), is a rare genetic disorder that affects the immune system. This condition is primarily caused by mutations in the BTK (Bruton’s tyrosine kinase) gene, which plays a crucial role in the development and function of B cells in the immune system. B cells are responsible for […]
Hematology Diseases
Symptoms and Testing information for RFX5 Gene Bare Lymphocyte Syndrome Type 2 Complementation Group C Genetic Test
Bare Lymphocyte Syndrome Type 2 Complementation Group C is a rare genetic disorder that affects the immune system. This condition is caused by mutations in the RFX5 gene, which plays a critical role in the development and function of the immune system. Individuals with this syndrome have a significantly increased susceptibility to infections due to […]
Symptoms and Testing information for IGLL1 Gene Agammaglobulinemia type 2 autosomal recessive Genetic Test
Agammaglobulinemia type 2, caused by mutations in the IGLL1 gene, is a rare genetic disorder that affects the immune system. This condition is characterized by an almost complete absence of immunoglobulins or antibodies, which are crucial for fighting infections. As a result, individuals with this condition are more susceptible to infections from an early age. […]
Symptoms and Testing information for CD79A Gene Agammaglobulinemia type 3 autosomal recessive Genetic Test
Agammaglobulinemia type 3, caused by mutations in the CD79A gene, is a rare genetic disorder that affects the immune system. This condition is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder. The CD79A gene plays a crucial role in the development […]
Symptoms and Testing information for BLNK Gene Agammaglobulinemia type 4 autosomal recessive Genetic Test
Agammaglobulinemia type 4, an autosomal recessive condition, stems from mutations in the BLNK gene. This condition is characterized by an early-onset of recurrent bacterial infections due to significantly reduced levels of immunoglobulins, which are crucial components of the body’s immune response. Recognizing the symptoms early and undergoing genetic testing can lead to better management and […]
Symptoms and Testing information for LRRC8A Gene Agammaglobulinemia type 5 autosomal recessive Genetic Test
Agammaglobulinemia type 5, an autosomal recessive disorder, results from mutations in the LRRC8A gene. This condition is characterized by an impaired immune system due to the lack of B lymphocytes, leading to a severe reduction in the production of antibodies. This makes individuals highly susceptible to infections. Understanding the symptoms and undergoing genetic testing can […]
Symptoms and Testing information for CD79B Gene Agammaglobulinemia type 6 autosomal recessive Genetic Test
Agammaglobulinemia type 6, caused by mutations in the CD79B gene, is a rare autosomal recessive disorder that significantly impacts the immune system. This condition is characterized by an almost complete lack of B lymphocytes, which are crucial for producing antibodies. Consequently, individuals with this disorder are more susceptible to infections. Understanding the symptoms and undergoing […]
Symptoms and Testing information for PIK3R1 Gene Agammaglobulinemia type 7 autosomal recessive Genetic Test
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 […]
Symptoms and Testing information for ATRX Gene Alpha-thalassemiamental retardation syndrome Genetic Test
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of services designed to provide individuals with crucial information about their genetic health. Among these, the ATRX Gene Alpha-thalassemia/mental retardation syndrome (ATRX) genetic test stands out for its importance in diagnosing a rare and complex condition. This article delves […]
Symptoms and Testing information for MDM2 Gene Accelerated tumor formation susceptibility to Genetic Test
In the realm of medical genetics, the understanding and identification of genetic markers associated with disease susceptibility have taken center stage. One such significant marker is the MDM2 gene, which has been closely linked to accelerated tumor formation. The MDM2 gene plays a pivotal role in the regulation of the p53 tumor suppressor protein. Mutations […]