Cerebral cavernous malformations (CCM) represent a critical neurological condition characterized by abnormally enlarged capillary cavities in the brain, which can lead to various complications, including seizures, neurological deficits, and hemorrhagic strokes. Among the genetic variants, Type 3 CCM, linked to mutations in the PDCD10 gene, is of significant concern due to its potential impact on […]
Coarctation of the Aorta (CoA) is a congenital heart defect characterized by the narrowing of the aorta, the major artery that carries blood from the heart to the body. This condition can lead to several complications if left undiagnosed and untreated. Recent advancements in genetics have identified the MCTP2 gene as a potential contributor to […]
Understanding ENPP1 Gene Arterial Calcification Type 1 Generalized Infantile Arterial calcification due to deficiency of ENPP1 (ACDC) or, more specifically, ENPP1 Gene Arterial Calcification Type 1 Generalized Infantile, is a rare genetic disorder. This condition is characterized by extensive vascular calcification early in life, leading to a range of cardiovascular anomalies. The ENPP1 gene plays […]
In the realm of genetic testing and diagnosis, advancements have been remarkable, especially in identifying and understanding rare genetic disorders. One such condition that has garnered attention in the medical community is Arterial Calcification due to Deficiency of CD73 (ACDC), also known as Generalized Arterial Calcification of Infancy type 2 (GACI type 2), attributed to […]
Arterial Tortuosity Syndrome (ATS) is a rare genetic disorder characterized by the twisting and lengthening of arteries throughout the body. This condition can lead to numerous complications, including an increased risk of aneurysm, dissection, and stenosis of the arteries. The SLC2A10 gene has been identified as a crucial player in the development of ATS. Mutations […]
In the realm of modern medical science, the understanding and treatment of cardiovascular diseases have seen significant advancements. Among these, genetic testing has emerged as a critical tool in identifying and managing various conditions, including atherosclerosis. One particular gene, the SOAT1 gene, has been closely linked with the development of this condition. DNA Labs UAE […]
Symptoms of GP1BA Gene Bernard Soulier Syndrome Type A1 Genetic Test Bernard-Soulier Syndrome (BSS) is a rare inherited bleeding disorder, characterized by the deficiency or dysfunction of the platelet glycoprotein complex GP1BA. This complex plays a crucial role in the process of platelet adhesion to the blood vessel wall, which is the first step in […]
Angioedema is a condition characterized by rapid swelling of the skin, mucous membranes, or both. This swelling is similar to hives but occurs beneath the skin instead of on the surface. Hereditary Angioedema (HAE) is a rare, genetic form of this condition, caused by a deficiency or malfunction of the C1 inhibitor protein, which is […]
Symptoms of SERPINC1 Gene Antithrombin III Deficiency Antithrombin III deficiency is a genetic disorder that affects the blood’s ability to clot appropriately, leading to an increased risk of developing blood clots. This condition is caused by mutations in the SERPINC1 gene, which plays a critical role in controlling blood clotting. Individuals with SERPINC1 gene antithrombin […]
The TGFBR2 gene is integral to the body’s ability to produce a protein that plays a critical role in cell growth, proliferation, differentiation, and apoptosis. Mutations in the TGFBR2 gene can lead to a variety of disorders, including Aortic Aneurysm Familial Thoracic Type 3, a condition characterized by the weakening and subsequent ballooning of the […]
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.
