Revvity’s workflow is said to lay the groundwork for future diagnosis of rare diseases in neonates. Credit: Praisaeng/Shutterstock.com.

Revvity, a global provider of health science solutions, has unveiled a new ‘sample-to-answer’ workflow designed to accelerate newborn sequencing research.

This research-use-only (RUO), flexible end-to-end workflow solution allows users to utilise different reagents, instruments, and databases based on the needs of a laboratory. It lays the groundwork for future diagnosis of rare diseases in neonates.

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The workflow helps identify variants across more than 350 genes, supported by an extensive database of pre-curated variants.

Revvity’s workflow offering includes a range of instruments and reagents tailored to the sequencing process.

Compatible with the Element AVITI system and other next-generation sequencing (NGS) platforms, the workflow features Chemagic kits and instruments for nucleic acid extraction, VICTOR2 D Instrument for sample quality control, liquid handlers and reagents for library preparation, and software capabilities.

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It also consists of dried blood spot collection and processing devices.

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Revvity’s Clinical Genomic Services offers a complete solution for laboratories that prefer to outsource workflow, from sample collection to final report delivery.

Revvity senior vice-president and chief scientific officer Madhuri Hegde said: “This new workflow from Revvity seeks to elevate the customer experience by leveraging a rich variant database for newborn sequencing research and providing critical components necessary to be able to go from sample to result.

“We are accelerating the democratisation of genomic sequencing by addressing the typical challenges faced by labs.”

Last year, Revvity introduced a CE-IVD declared platform, EONIS Q, to enable molecular testing in newborns for severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA).

The platform uses the EONIS Q96 instrument, EONIS SCID-SMA kit, and EONIS EASI software to help simplify and streamline molecular testing for both conditions.