Clinical-grade long-read sequencing test gains US regulatory approval

Azenta, Inc has introduced a long-read Whole Genome Sequencing (WGS) test for clinical applications, becoming the first commercial provider to secure regulatory approval for this offering in the United States.

Unlike traditional short-read sequencing methods, which often struggle to identify genetic variants in repetitive regions of the genome linked to rare diseases, Azenta’s test uses PacBio’s Revio sequencer to generate long and highly accurate HiFi sequencing reads. This approach enables comprehensive coverage of genomic regions that short-read technologies fail to access. Conducted within GENEWIZ from Azenta Life Sciences’ CLIA-certified and CAP-accredited clinical genomics laboratory, the test allows for precise detection of complex genomic alterations that are often missed by conventional sequencing methods, providing an unprecedented level of genomic insight.

Dr Ginger Zhou, Senior Vice President & General Manager of GENEWIZ Multiomics and Synthesis Solutions at Azenta Life Sciences, emphasised the significance of this advancement: “Clinical-grade long-read sequencing marks a major step forward in understanding the genetic basis of rare diseases. By capturing extensive DNA sequences in a single read, researchers can detect subtle genetic variations that were previously undetectable with conventional methods. This breakthrough enhances diagnostic accuracy while also paving the way for more targeted therapies and improved clinical trials.”

Christian Henry, President and Chief Executive Officer of PacBio, highlighted the role of PacBio’s technology in advancing genomic research: “Azenta’s test demonstrates the power of our Revio sequencer in generating the most precise and comprehensive genomic data available today. The accuracy of HiFi reads is transforming rare disease research, allowing scientists to uncover intricate genetic details. We are proud to support Azenta in pushing the boundaries of clinical genomics with these deeper, more precise insights.”

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