Symptoms and Testing information for NR3C2 Gene Hypertension Early Onset Genetic Test

Symptoms and Testing information for NR3C2 Gene Hypertension Early Onset Genetic Test

In the realm of medical genetics, understanding the underlying causes of diseases has always been a cornerstone for developing effective treatments and preventive measures. One such condition that has garnered significant attention is hypertension, particularly the early-onset form that is influenced by genetic factors. Among the genes implicated in this condition, the NR3C2 gene plays […]

Symptoms and Testing information for CUL3 Gene Pseudohypoaldosteronism Type 2E Genetic Test

Symptoms and Testing information for CUL3 Gene Pseudohypoaldosteronism Type 2E Genetic Test

Pseudohypoaldosteronism Type 2E, also known as Familial Hyperkalemia and Hypertension (FHHt), is a rare genetic disorder that affects the body’s ability to properly regulate blood pressure and potassium levels. It is caused by mutations in the CUL3 gene, which plays a crucial role in the regulation of electrolyte balance and blood pressure. Recognizing the symptoms […]

Symptoms and Testing information for HTRA1 Gene CARASIL Genetic Test

Symptoms and Testing information for HTRA1 Gene CARASIL Genetic Test

Sure, here’s a detailed article structured as requested: Understanding the Symptoms of HTRA1 Gene CARASIL Genetic Test Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, commonly known as CARASIL, is a rare genetic disorder that primarily affects the small blood vessels in the brain. This condition is caused by mutations in the HTRA1 gene […]

Symptoms and Testing information for PDCD10 Gene Cerebral Cavernous Malformations Type 3 Genetic Test

Symptoms and Testing information for PDCD10 Gene Cerebral Cavernous Malformations Type 3 Genetic Test

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 […]

Symptoms and Testing information for MCTP2 Gene Coarctation of the Aorta Genetic Test

Symptoms and Testing information for MCTP2 Gene Coarctation of the Aorta Genetic Test

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 […]

Symptoms and Testing information for ABCA1 Gene Coronary Artery Disease in Familial Hypercholesterolemia Protection Against Genetic Test

Symptoms and Testing information for ABCA1 Gene Coronary Artery Disease in Familial Hypercholesterolemia Protection Against Genetic Test

Understanding the intricate relationship between genetics and coronary artery disease is crucial, especially when it comes to familial hypercholesterolemia (FH). This condition, which often goes undiagnosed, puts individuals at a higher risk for early-onset coronary artery disease. However, advancements in genetic testing, particularly concerning the ABCA1 gene, have opened new avenues for identifying and managing […]

Symptoms and Testing information for GLA Gene Fabry Disease Genetic Test

Symptoms and Testing information for GLA Gene Fabry Disease Genetic Test

Fabry disease is a rare genetic disorder that can have significant impacts on an individual’s health. It results from the deficiency of an enzyme called alpha-galactosidase A, due to mutations in the GLA gene. This enzyme deficiency leads to the accumulation of a specific type of fat, globotriaosylceramide (Gb3), in the body’s cells, which can […]

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