Testing for CSTB is now established
Tests for mutations of the CSTB gene have been established. Mutations in the CSTB (Cystatin B) gene results in an epileptic phenotype with progresiv myoclonic epilepsy (EPM1). The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.