Can Droplet Digital PCR Detect 22q11.2 Deletion Syndrome?


Researchers at UC Davis applied Droplet Digital PCR (ddPCR) technology to determine copy number variation (CNV) and characterize the deletion endpoints of the region of chromosome 22 that is deleted 22q11DS. They found that ddPCR assays rapidly produced high-resolution copy number change measurements and defined the position of the deletion endpoints with great sensitivity and specificity.