PacBio announces entry into high-throughput carrier screening market

PacBio (PACB) announced its entry into the high-throughput carrier screening market with a significantly expanded and enhanced suite of PureTarget products. The updated solutions leverage PacBio’s highly accurate HiFi sequencing technology to allow clinical laboratories to consolidate multiple specialized assays into a single, scalable test capable of resolving some of the most challenging genes associated with inherited conditions. Recent research shows that up to 71% of individuals carry at least one pathogenic variant, highlighting the growing importance of carrier screening in family planning. The use of carrier screening is rapidly expanding across commercial labs, health systems, and government-funded programs worldwide. The analysis of technically difficult hereditary genes – such as those linked to fragile X syndrome, spinal muscular atrophy, and Friedreich Ataxia- has historically required multiple technologies and specialized workflows. This fragmentation slowed adoption of comprehensive carrier screening, increased costs, and limited global access. PacBio’s expanded PureTarget portfolio now provides laboratories with broad, accurate carrier screening solutions, including coverage of all challenging tier 3 genes identified in the American College of Medical Genetics technical standard. The panels are available in 24- and 96-sample kit formats, with three complementary configurations designed to meet a range of laboratory needs: A carrier screening panel for inherited reproductive conditions; A repeat expansion disorder panel for neurological diseases; A control panel to support custom assay design and validation Together, these kits allow laboratories to replace multiple specialized assays with a single streamlined workflow, adaptable from targeted clinical programs to national population-screening initiatives.