Cerebral cavernous malformations (CCMs) are vascular abnormalities in the brain that can cause a variety of symptoms and complications. Among the genetic forms of this condition, type 1, linked to mutations in the KRIT1 gene, is significant due to its inheritance patterns and potential impact on affected individuals and their families. Recognizing the symptoms associated […]
Cardiovascular Diseases
Symptoms and Testing information for CCM2 Gene Cerebral Cavernous Malformations Type 2 Genetic Test
Cerebral cavernous malformations (CCM) are vascular abnormalities in the brain and spinal cord composed of clusters of dilated blood vessels. These malformations can cause a range of neurological symptoms and are classified based on their genetic cause. One such type is CCM type 2, caused by mutations in the CCM2 gene. Understanding the symptoms of […]
Symptoms and Testing information for NOTCH1 Gene Aortic Valve Disease Type 1 Genetic Test
“` Understanding NOTCH1 Gene Aortic Valve Disease Type 1 Aortic Valve Disease Type 1, caused by mutations in the NOTCH1 gene, is a significant genetic condition that can lead to various cardiovascular issues, including aortic valve malformations, ventricular septal defects, and even critical conditions like aortic valve stenosis. Identifying the symptoms early on can be […]
Symptoms and Testing information for SMAD6 Gene Aortic Valve Disease Type 2 Genetic Test
Symptoms of SMAD6 Gene Aortic Valve Disease Type 2 Genetic Test Aortic valve disease is a condition that disrupts the proper flow of blood from the heart through the aortic valve to the rest of the body. One specific type of this condition, associated with the SMAD6 gene, has garnered significant attention within the medical […]
Symptoms and Testing information for ENPP1 Gene Arterial Calcification Type 1 Generalized Infantile Genetic Test
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 […]
Symptoms and Testing information for ABCC6 Gene Arterial Calcification Type 2 Generalized Infantile Genetic Test
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 […]
Symptoms and Testing information for SLC2A10 Gene Arterial Tortuosity Syndrome Genetic Test
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 […]
Symptoms and Testing information for SOAT1 Gene Atherosclerosis SOAT1 Related Genetic Test
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 and Testing information for GP1BA Gene Bernard Soulier Syndrome Type A1 Genetic Test
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 […]
Symptoms and Testing information for SERPING1 Gene Angioedema Hereditary Genetic Test
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 […]