Evaluation of a deep-sampling PCR assay for KIT D816V detection at ultra-low variant allele frequencies

Rare variant detection in liquid biopsy and heme malignancies is limited by the partition count and DNA input capacity of conventional digital PCR (dPCR). Countable PCR is a deep sampling approach that partitions large DNA inputs (up to >1 µg) into over 30 million single-molecule compartments per reaction. Here, the KIT D816V assay on Countable PCR is analytically and clinically evaluated against a reference dPCR platform, also uncovering samples that were undetected by dPCR.