Severe Congenital Neutropenia (SCN) is a rare genetic disorder that primarily affects the bone marrow, leading to a significant reduction in the number of neutrophils. Neutrophils are a type of white blood cell crucial for fighting off infections. The ELANE gene, when mutated, is a common cause of this condition, specifically referred to as ELANE […]
Hereditary Persistence of Fetal Hemoglobin (HPFH) is a benign genetic condition that can lead to the continued production of fetal hemoglobin (HbF) into adulthood. Normally, the production of HbF, which is the primary oxygen transport protein in the fetus, decreases significantly after birth and is replaced by adult hemoglobin (HbA). However, individuals with HPFH maintain […]
Severe Congenital Neutropenia (SCN) is a rare genetic disorder that significantly impacts the immune system, primarily characterized by an abnormally low count of neutrophils, a type of white blood cell crucial for fighting off infections. Among the genetic variants causing SCN, mutations in the HAX1 gene result in a particular form called Severe Congenital Neutropenia […]
The LARS2 gene is associated with a rare but serious condition that combines features of hydrops, lactic acidosis, and sideroblastic anemia. This genetic disorder, due to mutations in the LARS2 gene, affects mitochondrial function, leading to a range of clinical symptoms. Recognizing these symptoms early can be crucial for managing the condition effectively. DNA Labs […]
Symptoms of VPS45 Gene Neutropenia Severe Congenital Type 5 Autosomal Recessive Genetic Test Neutropenia Severe Congenital Type 5, also known as VPS45-associated neutropenia, is a rare autosomal recessive genetic disorder that significantly impacts the immune system. This condition is caused by mutations in the VPS45 gene, which plays a crucial role in vesicle trafficking processes […]
At DNA Labs UAE, we understand the critical role that genetics plays in our health and well-being. One specific area of our expertise is the diagnosis and understanding of genetic conditions that affect the body’s ability to absorb and utilize essential nutrients. A prime example of such a condition is Intrinsic Factor Deficiency caused by […]
Iron deficiency anemia is a common type of anemia that occurs when the body doesn’t have enough iron to produce adequate amounts of hemoglobin, the substance in red blood cells that enables them to carry oxygen. However, a rare form known as Iron-Refractory Iron Deficiency Anemia (IRIDA) is caused by mutations in the TMPRSS6 gene. […]
Leukemia, a type of cancer that affects the blood and bone marrow, has various forms, with Acute Myeloid Leukemia (AML) being one of the most severe and rapidly progressing types. Recent advancements in genetic research have shed light on the role of genetic mutations in the development of AML, particularly the mutation in the TERT […]
Leukocyte Adhesion Deficiency Type 3 (LAD-III), also known as LAD-1/variant, is a rare genetic disorder that affects the immune system. It is characterized by the body’s inability to properly adhere leukocytes, or white blood cells, to blood vessel walls. This defect in adhesion impairs the immune system’s ability to fight infections and slows down the […]
Granulomatous Disease, specifically the Chronic Granulomatous Disease (CGD) caused by mutations in the CYBA gene, is a rare and severe genetic disorder. This condition affects the immune system, leading to a heightened susceptibility to infections. Individuals with this disorder have immune cells (phagocytes) that cannot effectively produce reactive oxygen species due to a deficiency in […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
