KCNA2 is a gene encoding the Kv1.2 potassium channel. This channel allows potassium ions to leave the cell and helps facilitate the transmission of electrical signals between cells. Mutations in the KCNA2 gene can impact cellular function and contribute to a variety of rare conditions, including epileptic encephalopathy and others.
Pairnomix offers personalized screening services for individuals with rare genetic conditions, such as those caused by KCNA2 mutations. Our services can be ordered by a physician to produce new information about a specific genetic mutation.
In providing these services, we will create a laboratory model of an individual’s genetic mutation and perform experiments to understand the impact of that mutation on cellular function. We will then test more than 1,300 approved drugs against the modeled mutation for their abilities to reverse the mutation’s functional consequence. Finally, we will provide our findings to the individual’s physician so they can consider these insights. The costs for research services vary by gene and mutation and are determined by the type of scientific work needed for execution.
Pairnomix has provided personalized screening services for mutations in select genes, including KCNQ2 and SCN8A. Click here to learn about some of our prior work.
We also offer these services for those with eligible KCNA2 mutations. If you are interested in having services performed for a particular KCNA2 mutation and would like information on pricing and how your physician can order these services, please contact us.