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 […]
Hematology Diseases
Symptoms and Testing information for HAX1 Gene Neutropenia Severe Congenital Type 3 Genetic Test
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 […]
Symptoms and Testing information for LARS2 Gene Hydrops Lactic Acidosis and Sideroblastic Anemia Genetic Test
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 and Testing information for VPS45 Gene Neutropenia Severe Congenital Type 5 Autosomal Recessive Genetic Test
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 […]
Symptoms and Testing information for CBLIF Gene Intrinsic Factor Deficiency Genetic Test
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 […]
Symptoms and Testing information for TMPRSS6 Gene Iron-Refractory Iron Deficiency Anemia Genetic Test
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. […]
Symptoms and Testing information for TERT Gene Leukemia Acute Myeloid Form Susceptible Due to TERT Germline Mutation Genetic Test
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 […]
Symptoms and Testing information for FERMT3 Gene Leukocyte Adhesion Deficiency Type 3 Genetic Test
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 […]
Symptoms and Testing information for KLF1 Gene Lutheran Inhibitor Blood Group Genetic Test
Understanding the KLF1 Gene and Its Significance in Blood Groups The KLF1 gene plays a pivotal role in the regulation of erythropoiesis, the process responsible for the production of red blood cells. Mutations or alterations in this gene can lead to a variety of hematologic abnormalities, including changes in the Lutheran blood group system. The […]
Symptoms and Testing information for NCF2 Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome B-Positive Type 2 Genetic Test
Understanding the complexities of genetic conditions is crucial for early diagnosis and effective management. One such condition is the Chronic Granulomatous Disease (CGD) of the NCF2 gene, Autosomal Recessive Cytochrome b-Positive Type 2. This rare genetic disorder affects the immune system’s ability to function properly, leading to severe infections. Recognizing the symptoms early on can […]