Symptoms and Testing information for MTRR Gene Homocystinuria-Megaloblastic Anemia Cbl E Type Genetic Test

Symptoms and Testing information for MTRR Gene Homocystinuria-Megaloblastic Anemia Cbl E Type Genetic Test

Understanding the genetic underpinnings of various health conditions is crucial for early detection, management, and treatment. Among these, the MTRR gene plays a significant role in the body’s ability to process certain vitamins and amino acids. Mutations in this gene can lead to Homocystinuria-Megaloblastic Anemia Cbl E Type, a rare but serious condition. Recognizing the […]

Symptoms and Testing information for RASA1 Gene Capillary Malformation-Arteriovenous Malformation Genetic Test

Symptoms and Testing information for RASA1 Gene Capillary Malformation-Arteriovenous Malformation Genetic Test

Symptoms of RASA1 Gene Capillary Malformation-Arteriovenous Malformation Genetic Test The RASA1 gene plays a crucial role in the development and maintenance of blood vessels. Mutations in the RASA1 gene can lead to capillary malformation-arteriovenous malformation (CM-AVM), a disorder that affects the vascular system. This condition is characterized by the presence of capillary malformations and arteriovenous […]

Symptoms and Testing information for MAT2A Gene Aortic Aneurysm Familial Thoracic MAT2A Related Genetic Test

Symptoms and Testing information for MAT2A Gene Aortic Aneurysm Familial Thoracic MAT2A Related Genetic Test

Aortic aneurysms, particularly those that are familial and occur in the thoracic area, are serious conditions that can lead to life-threatening complications if not properly diagnosed and managed. The MAT2A gene plays a significant role in the development of familial thoracic aortic aneurysms, and understanding the symptoms and genetic underpinnings of this condition is crucial […]

Symptoms and Testing information for NOTCH1 Gene Aortic Valve Disease Type 1 Genetic Test

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 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

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

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 […]

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