Twist Bioscience and Victorian Clinical Genetic Services (VCGS) of Australia said on Thursday that they have jointly developed a whole-exome capture assay that VCGS plans to use as a clinical diagnostic test.
The assay combines Twist’s Human Comprehensive Exome with customized content for rare and inherited diseases from VCGS to minimize gaps in clinically relevant genes and transcripts. It includes noncoding regions that are known to contain pathogenic variants.
VCGS, a not-for-profit subsidiary of Murdoch Children’s Research Institute located at the Royal Children’s Hospital in Melbourne, said it is accredited by Australian authorities to use the assay as an in vitro diagnostic product. It focuses on prenatal, childhood, and adult genetic services.
“Our collaboration with Twist has provided us with a unique whole exome analysis solution that provides comprehensive and consistent high-quality results in all clinically relevant regions,” said Sebastian Lunke, head of the Division of Genetics and Genomics at VCGS and Murdoch Children’s Research Institute, in a statement. He added that the assay can be used for both single samples and larger sample batches.