Genetic Test
The KLKB1 (Kallikrein B1) gene encodes a protein involved in blood coagulation, inflammation, and fibrinolysis.
This protein plays a key role in regulating these physiological processes.
Mutations in the KLKB1 gene are associated with prekallikrein deficiency, a disorder affecting normal blood clotting mechanisms.
This genetic test targets a specific mutation linked to prekallikrein deficiency.
Disease Description
Prekallikrein deficiency is a hereditary disorder characterized by prolonged blood coagulation time.
Prekallikrein regulates the activation of coagulation factors XI and XII, playing an important role in blood pressure regulation and inflammation activation.
When prekallikrein is deficient, activation of factor XII is delayed, resulting in an extended clotting time following injury.
