New: P498 CSTB

Progressive Myoclonic Epilepsy Type 1 (EPM1), also known as Unverricht-Lundborg disease, is an autosomal recessive neurodegenerative disorder and the most common single cause of progressive myoclonus epilepsy worldwide. Variants of the CSTB gene, which encodes for a cysteine protease inhibitor called cystatin B, are the predominant underlying cause of EPM1. Virtually all affected individuals have an unstable dodecamer repeat expansion in one or both alleles of CSTB. 

SALSA^® MLPA^® Probemix P498 CSTB is a new assay developed to specifically detect deletions or duplications in the CSTB gene.