Ambry Genetics: ExomeReveal
Ambry Genetics has launched the ExomeReveal multiomic exome sequencing test for rare disease detection. According to the Aliso Viejo, California-based firm, the test improves such detection compared with conventional DNA-based exome sequencing by including RNA analysis of qualified splicing variants that cannot be classified from DNA alone. Inclusion of RNA analysis allows the ExomeReveal test to provide insights into variants of unknown significance, Ambry said. In early-access assessments of the assay, approximately 5 percent of exome-sequencing cases were referred for RNA analysis based on initial DNA results, while clinically meaningful results were reported for about 2 percent of patients, the company said. The test is performed at Ambry's CAP-accredited, CLIA-certified and New York state-approved laboratory.
Zymo Research SPLAT DNA Library Kit
Zymo Research has launched its Zymo-Seq SPLAT DNA Library Kit, which uses Splinted Ligation Adapter Tagging (SPLAT) technology to directly ligate adapters onto single-stranded DNA fragments, thus preserving vital genetic information, ensuring accurate genomic assessment, and enabling high-sensitivity detection of fragmentation patterns, the company said. The technology supports a wide range of sample types, including cell-free DNA, FFPE-derived DNA, and genomic DNA, while the two-step workflow allows for the preparation of DNA samples into sequencing-ready libraries in as little as three hours, Zymo said.
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