Diamond-Blackfan Anemia (DBA) is a rare blood disorder characterized by the failure of the bone marrow to produce enough red blood cells. This condition can lead to severe anemia and various other complications. Among the genetic mutations known to cause DBA, mutations in the RPS17 gene are responsible for Diamond-Blackfan Anemia Type 4. Recognizing the […]
Hematology Diseases
Symptoms and Testing information for GFI1B Gene Bleeding Disorder Platelet-Type 17 Genetic Test
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 […]
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 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 […]