Azenta has introduced a long-read Whole Genome Sequencing (WGS) test for clinical applications.

Azenta becomes the first commercial provider to obtain regulatory approval to offer this test in the United States.

Traditional short-read sequencing methods often struggle with identifying genetic variants in repetitive regions of the genome that underpin many rare diseases, hindering accurate diagnoses and targeted treatments. In contrast, Azenta's test makes use of PacBio's Revio sequencer to obtain long and highly accurate HiFi sequencing reads to cover regions that are inaccessible by short reads.

Performed within GENEWIZ from Azenta Life Sciences' CLIA-certified and CAP-accredited state-of-the-art clinical genomics laboratory, the test enables precise detection of a range of complex genomic alterations that are features of many rare diseases and undetectable by traditional approaches. This allows for a view of the genome with unprecedented comprehensiveness.

"Clinical-grade long-read sequencing represents a monumental leap forward in the ability to decipher the genetic basis of rare diseases. By capturing long stretches of DNA in a single read, researchers can uncover subtle genetic nuances that were previously undetectable with conventional methods," said Dr. Ginger Zhou, Senior Vice President & General Manager – GENEWIZ Multiomics and Synthesis Solutions from Azenta Life Sciences.

"This capability not only enhances diagnostic accuracy but also opens new avenues for developing targeted therapies and conducting more effective clinical trials," added Dr. Ginger Zhou.

"Azenta's test highlights the power of PacBio's technology in generating the most accurate and comprehensive genomic data available today. Revio's highly accurate HiFi reads are having an increasingly significant impact, allowing researchers to uncover the complex intricacies of rare diseases. We are proud to support their innovative work in expanding what's possible in clinical applications with these deeper, more precise views of the genome," said Christian Henry, President and Chief Executive Officer of PacBio.