U.S., Sept. 25 -- ClinicalTrials.gov registry received information related to the study (NCT07839754) titled 'EpiSign International: Expanding Epigenomic Testing in Rare Disease' on Sept. 04.
Brief Summary: The purpose of this study is to assess the utility of EpiSign software and an integrated DNA methylation and copy number variant (CNV) microarray technology in helping to diagnose individuals with rare diseases. EpiSign is a proprietary technology developed by EpiSign Inc. that uses DNA methylation patterns as biomarkers for rare diseases, including genetic disorders and conditions associated with environmental exposures. DNA methylation microarrays measure DNA methylation levels at specific locations across the genome. CNV microarray t...