EpiSign Expands Rare-Disease Diagnostics to Sequencing Platforms

The launch addresses a persistent bottleneck in clinical genetics: the difficulty of translating raw sequencing-derived methylation signals into actionable rare-disease insights. Previously, laboratories were often forced to build and maintain their own disease-specific classifiers and reference pipelines to parse this data. EpiSign METRIC 5-base removes this technical burden by providing a universal classification framework compatible with the company’s existing Version 6 platform.

Technical validation has already been completed across the three supported sequencing technologies, showing performance metrics that mirror the established microarray framework. Clinical diagnostic sites, including Ambry Genetics, Amsterdam UMC, and the Greenwood Genetic Center, are currently moving into the evaluation phase to integrate this functional layer into their local sequencing workflows. While the platform is currently restricted to research use, its rollout through the international EpiSign Clinical Testing Network marks a shift toward capturing comprehensive epigenomic data alongside standard genomic sequencing.