Symptoms and Testing information for GP9 Gene Bernard Soulier Syndrome Type C Genetic Test

Symptoms and Testing information for GP9 Gene Bernard Soulier Syndrome Type C Genetic Test

Bernard-Soulier Syndrome (BSS) is a rare inherited blood disorder that affects platelet function, leading to increased bleeding. It is caused by mutations in genes that are critical for platelet production and function, including the GP9 gene. Type C of this syndrome, associated with mutations in the GP9 gene, is one of the variants that can […]

Symptoms and Testing information for CBS Gene Homocystinuria Due to Cystathionine Beta-Synthase Deficiency Genetic Test

Symptoms and Testing information for CBS Gene Homocystinuria Due to Cystathionine Beta-Synthase Deficiency Genetic Test

Homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a rare genetic disorder that affects the body’s ability to process certain amino acids properly. This condition can lead to a variety of health issues, including vision problems, skeletal abnormalities, blood clots, and developmental delays. Early detection and management are crucial for individuals with CBS deficiency. DNA […]

Symptoms and Testing information for TGFBR1 Gene Aortic Aneurysm Familial Thoracic Type 5 Genetic Test

Symptoms and Testing information for TGFBR1 Gene Aortic Aneurysm Familial Thoracic Type 5 Genetic Test

In the realm of genetic testing and diagnosis, the advancements in medical science have paved the way for identifying and managing hereditary conditions more effectively than ever before. Among these, the genetic predisposition to Aortic Aneurysms, particularly Familial Thoracic Type 5, mediated by mutations in the TGFBR1 gene, has garnered significant attention. At DNA Labs […]

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 […]

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