The RYR2 gene, also known as the Ryanodine receptor 2 gene, is a gene that encodes for the ryanodine receptor 2 protein. Mutations in this gene can lead to various diseases and conditions, including arrhythmogenic…
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DHEA Sulfate Test
The DHEA Sulfate Test is a blood test that measures the level of DHEA-S (dehydroepiandrosterone sulfate) in the body. DHEA-S is a hormone produced by the adrenal glands and testicles (in men) that can be…
TAP1 gene
The TAP1 gene, also known as the Transporter Associated with Antigen Processing 1 gene, is a genetic variant that is related to a number of diseases and conditions. The gene is part of a complex…
Colorectal Cancer Screening Tests
Colorectal cancer is a serious disease that affects the colon or rectum. It usually starts as benign growths called polyps, which can become cancerous over time. Detecting and treating colorectal cancer early is crucial for…
Tay-Sachs disease
Tay-Sachs disease, also known as GM2 gangliosidosis, is a rare genetic condition that affects the nervous system. It is one of several forms of lysosomal storage diseases caused by the loss of function of certain…
Cyclic vomiting syndrome
Cyclic Vomiting Syndrome (CVS) is a rare disorder characterized by episodes of severe vomiting and nausea. This condition predominantly affects children, but it can also persist into adulthood. The exact cause of CVS remains unknown,…
GRHPR gene
GRHPR is a gene that encodes the enzyme glyoxylate reductase/hydroxypyruvate reductase, which is primarily expressed in the kidney. The GRHPR gene plays a crucial role in the metabolism of glyoxylate and hydroxypyruvate, by converting them…