PacBio Enters High-Throughput Carrier Screening Market with Standalone HiFi Sequencing Assay for Challenging Genes

PacBio has launched a high-throughput carrier screening solution using its HiFi long-read sequencing technology, enabling accurate detection of difficult-to-sequence inherited disease genes like FMR1, SMN1, and FXN. The new PureTarget portfolio replaces multiple specialized assays with a single, scalable workflow, covering all challenging Tier 3 genes defined by the ACMG. Available in 24- and 96-sample kits, it supports up to 100,000 samples annually per Revio system for population-scale programs. Experts note that the system improves both sensitivity and specificity while simplifying lab operations and reducing costs. This move signals PacBio’s expansion into clinical genomics, offering comprehensive, cost-effective carrier screening worldwide.