Megaloblastic anemia type 1, caused by mutations in the AMN gene, is a rare and inherited condition that affects the body’s ability to properly absorb vitamin B12. The proper absorption of vitamin B12 is crucial for the production of healthy red blood cells and for maintaining proper nerve function. A deficiency in vitamin B12 can […]
Hematology Diseases
Symptoms and Testing information for CUBN Gene Megaloblastic Anemia Type 1 Finnish Type Genetic Test
Symptoms of CUBN Gene Megaloblastic Anemia Type 1 Finnish Type Genetic Test Megaloblastic anemia type 1 Finnish type, caused by mutations in the CUBN gene, is a rare genetic disorder. This condition can lead to various health issues, primarily affecting the body’s ability to produce healthy red blood cells. Understanding the symptoms is crucial for […]
Symptoms and Testing information for CYB5R3 Gene Methemoglobinemia Type 1 Genetic Test
Methemoglobinemia Type 1 is a rare genetic disorder that affects the body’s ability to manage methemoglobin, a form of hemoglobin that is unable to carry oxygen efficiently. This condition is primarily caused by mutations in the CYB5R3 gene. Understanding the symptoms and getting tested can be crucial for managing the condition effectively. DNA Labs UAE […]
Symptoms and Testing information for GPI Gene Hemolytic Anemia Nonspherocytic Due to Glucose Phosphate Isomerase Deficiency Genetic Test
Glucose Phosphate Isomerase (GPI) deficiency is a rare, inherited metabolic disorder that affects the way red blood cells function. This condition falls under the umbrella of nonspherocytic hemolytic anemias, which are characterized by the premature destruction of red blood cells and do not involve the spherocytosis (spherical red blood cells) seen in other types of […]
Symptoms and Testing information for PDGFRB Gene Myeloproliferative Disorder Chronic with Eosinophilia Genetic Test
The PDGFRB gene myeloproliferative disorder chronic with eosinophilia is a rare genetic condition that can have significant health implications for those affected. Understanding the symptoms and the importance of genetic testing can be crucial in managing this condition effectively. DNA Labs UAE offers a comprehensive genetic test for this disorder, aiming to provide crucial insights […]
Symptoms and Testing information for F9 Gene Hemophilia B Genetic Test
Hemophilia B, also known as Christmas disease, is a genetic disorder that leads to impaired blood clotting. This condition, caused by mutations in the Factor IX (F9) gene, results in a deficiency of Factor IX, a protein crucial for blood clotting. Recognizing the symptoms early can be vital for effective management and treatment. DNA Labs […]
Symptoms and Testing information for ELANE Gene Neutropenia Severe Congenital Type 1 Genetic Test
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 […]
Symptoms and Testing information for HBG2 Gene Hereditary Persistence of Fetal Hemoglobin Genetic Test
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 […]
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 EPOR Gene Erythrocytosis Familial Type 1 Genetic Test
Erythrocytosis Familial Type 1 is a rare genetic condition characterized by an increased red blood cell mass, leading to an elevated hematocrit level. This condition is caused by mutations in the EPOR gene, which plays a crucial role in the production of red blood cells. Understanding the symptoms and undergoing genetic testing for this condition […]