EFHC1 gene
The EFHC1 gene is associated with a rare form of epilepsy called myoclonic epilepsy. It is responsible for the production of a protein that plays a role in the regulation of neurons in the brain. This protein is thought to…
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PDL1 Immunotherapy Tests
Immunotherapy is a type of treatment that uses medicines to help your immune system fight cancer. One type of immunotherapy is called PDL1 immunotherapy. It is used for certain cancers and helps remove the “brakes” on the immune system, allowing…
NCF1 gene
The NCF1 gene, also known as p47phox, is a central component of the neutrophil oxidative burst system. Mutations in this gene cause a variant of chronic granulomatous disease, which is a genetic disorder characterized by recurrent and life-threatening infections and…
HNRNPK gene
The HNRNPK gene is a protein-coding gene that is involved in various cellular processes, including gene expression, RNA processing, and cellular differentiation. It has been linked to several health conditions and diseases, including certain types of cancers and genetic syndromes.…
15q24 microdeletion
15q24 microdeletion is a rare genetic condition that affects a small portion of the population. It is characterized by the deletion of genetic material on the 15q24 chromosome. This condition has been the focus of scientific research, with studies conducted…
Thyroglobulin
Thyroglobulin is a protein produced by the thyroid gland, which is responsible for the production of the thyroid hormones. The thyroid gland is a small, butterfly-shaped organ located in the front of the neck. It plays a crucial role in…
ACTB gene
The ACTB gene, also known as the beta-actin gene, is responsible for encoding a protein called beta-actin. Beta-actin is one of the most abundant and highly conserved proteins in eukaryotic cells. It plays a crucial role in various cellular processes,…
L2HGDH gene
The L2HGDH gene, also known as the L-2-hydroxyglutarate dehydrogenase gene, is one of the genes responsible for a condition called L-2-hydroxyglutaric aciduria. This gene provides instructions for making an enzyme that helps break down a compound called L-2-hydroxyglutarate. When mutations…
LPL gene
The LPL gene (lipoprotein lipase) is responsible for encoding an enzyme that plays a crucial role in lipid metabolism. Lipoprotein lipase breaks down fats from the bloodstream and converts them into energy that can be used by the body. Mutations…
Brivaracetam
Brivaracetam Brivaracetam is used alone and in combination with other medications to control partial onset seizures (seizures that involve only one part of the brain) in adults, children, and infants 1 month of age and older. Brivaracetam is in a…