Revvity, Inc., a pioneering force in genomic sequencing technology, has announced the launch of a groundbreaking "sample-to-answer" workflow tailored specifically for newborn sequencing research. Unveiled on March 15, 2024, this innovative solution is designed to transform the landscape of diagnosing rare diseases in newborns by offering unparalleled flexibility and efficiency.

The newly introduced workflow is a comprehensive, research-use only (RUO) system that enables laboratories to navigate the complex process of genomic sequencing from sample collection to result interpretation seamlessly. With the capacity to identify variants across more than 350 genes, this solution is underpinned by a vast database of pre-curated variants, ensuring accuracy and reliability in research outcomes.

Dr. Madhuri Hegde, SVP and chief scientific officer at Revvity, emphasized the workflow's potential to revolutionize the genomic sequencing field by overcoming traditional barriers and enhancing user experience. "Our aim is to democratize genomic sequencing by making it more accessible and manageable for laboratories of all sizes," she stated. The workflow's adaptability allows users to select the most suitable instruments, reagents, and databases according to their specific research requirements, thus fostering innovation and discovery in the realm of newborn genetic testing.

Included in Revvity's offering are cutting-edge tools and technologies such as dried blood spot collection and processing devices, Chemagic™ kits for nucleic acid extraction, and the VICTOR2™ D Instrument for sample quality control, among others. Compatible with the Element AVITI™ system and other leading next-generation sequencing (NGS) platforms, the workflow ensures broad applicability and ease of integration into existing lab infrastructures.

Furthermore, Revvity's Clinical Genomic Services division provides comprehensive outsourcing options, from sample collection kit delivery to the final report generation. This flexibility enables labs to either fully outsource the sequencing workflow or integrate specific elements into their in-house operations, catering to the diverse needs of the scientific community.

With this development, Revvity positions itself at the forefront of genetic research innovation, paving the way for early and accurate diagnosis of rare diseases in newborns through advanced genomic sequencing technologies