Development of Advanced Droplet Digital PCR (ddPCR) Applications for the Clinical Lab

Development of Advanced Droplet Digital PCR (ddPCR) Applications for the Clinical Lab

Abstract
The detection of multiple and actionable variants is an integral part of molecular diagnostic testing. We describe a new test platform that uses very low input of nucleic acids to simultaneously detect multiple molecular variants of interest in oncology and virology. We describe a robust process for developing clinically relevant molecular assays using ddPCR in plasma and in respiratory specimens. In a series of case studies, we utilized these best practices to demonstrate the unique ability of ddPCR to provide insights into a potential viral replication and infectivity assay based on SARS-CoV-2 detection. More recent work will be discussed that introduces a new platform and ddPCR assays in plasma for rare variant detection in cancer. The QX600 allows the conservation of limited specimens while maintaining sensitivity and rapid turn-around times to actionable results. In these latter studies, results from high complexity six color ddPCR analyses in clinically relevant samples were compared to those from currently available ddPCR platforms with on-market gold-standard assays of lower plexity.