Symptoms of GFI1B Gene Bleeding Disorder Platelet-Type 17 Genetic Test The GFI1B gene is critical for the normal development and function of platelets and red blood cells. Mutations in this gene can lead to a rare condition known as Bleeding Disorder Platelet-Type 17 (BDPLT17). This condition is characterized by a range of symptoms that can […]
Hematology Diseases
Symptoms and Testing information for RPL35A Gene Diamond-Blackfan Anemia Type 5 Genetic Test
Symptoms of RPL35A Gene Diamond-Blackfan Anemia Type 5 Genetic Test Diamond-Blackfan Anemia (DBA) is a rare blood disorder, characterized by a failure of the bone marrow to produce enough red blood cells. This failure leads to anemia and a variety of other symptoms. Among the genetic variants causing DBA, mutations in the RPL35A gene result […]
Symptoms and Testing information for P2RY12 Gene Bleeding Disorder Platelet-Type 8 Genetic Test
Understanding P2RY12 Gene Bleeding Disorder Platelet-Type 8 Bleeding disorders are a group of conditions that result when the blood cannot clot properly. Among these, the P2RY12 gene bleeding disorder, also known as Platelet-Type 8, is a rare but significant condition that affects the platelet function in the blood. Platelets are small blood cells that play […]
Symptoms and Testing information for RPL5 Gene Diamond-Blackfan Anemia Type 6 Genetic Test
Diamond-Blackfan Anemia (DBA) is a rare, inherited bone marrow failure disorder, characterized by a failure of the bone marrow to produce red blood cells. This failure causes anemia, which can lead to a variety of health issues. Among the genes implicated in this condition, mutations in the RPL5 gene are responsible for Diamond-Blackfan Anemia Type […]
Symptoms and Testing information for SRP72 Gene Bone Marrow Failure Syndrome Type 1 Genetic Test
Bone marrow failure syndromes represent a group of disorders characterized by the bone marrow’s inability to produce sufficient blood cells. Among these, SRP72 Gene Bone Marrow Failure Syndrome Type 1 is a condition that has garnered attention within the medical community due to its genetic basis and the critical need for early diagnosis and intervention. […]
Symptoms and Testing information for RPL11 Gene Diamond-Blackfan Anemia Type 7 Genetic Test
DNA Labs UAE is at the forefront of genetic diagnostics, offering a comprehensive range of tests designed to identify genetic conditions accurately. Among these, the RPL11 Gene Diamond-Blackfan Anemia Type 7 Genetic Test stands out for its specificity in diagnosing a rare but significant form of anemia. This article delves into the symptoms of the […]
Symptoms and Testing information for ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2 Genetic Test
Symptoms of ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2 Bone Marrow Failure Syndrome Type 2, associated with mutations in the ERCC6L2 gene, is a rare genetic disorder that can have significant implications on an individual’s health. This condition primarily affects the bone marrow’s ability to produce blood cells efficiently, leading to a spectrum of […]
Symptoms and Testing information for HBG2 Gene Cyanosis Transient Neonatal Genetic Test
The HBG2 gene plays a crucial role in the development and functioning of hemoglobin in humans. Mutations in this gene can lead to various blood-related disorders, including transient neonatal cyanosis. This condition is characterized by a blue or purple coloration of the skin, often apparent shortly after birth, indicating that the baby’s blood is not […]
Symptoms and Testing information for PIEZO1 Gene Dehydrated Hereditary Stomatocytosis Genetic Test
Symptoms of PIEZO1 Gene Dehydrated Hereditary Stomatocytosis Genetic Test Dehydrated Hereditary Stomatocytosis (DHS), also known as xerocytosis, is a rare genetic condition that affects red blood cells. It is primarily caused by mutations in the PIEZO1 gene. This condition leads to a variety of symptoms that can significantly impact the quality of life of those […]
Symptoms and Testing information for SPTB Gene Anemia neonatal hemolytic fatal and near-fatal Genetic Test
Anemia is a condition that affects millions of individuals worldwide, but when it strikes newborns with a severity that can be described as either fatal or near-fatal, the urgency to understand and address the issue becomes paramount. Among the genetic factors that can lead to such severe forms of neonatal hemolytic anemia, mutations in the […]