EpiSign is an assay designed to readily identify proven and reproducible epigenetic signatures by assessing genome-wide methylation.
EpiSign has multiple applications in the clinical setting by providing an additional diagnostic tool beyond the current sequencing and copy number technology paradigm. EpiSign can detect multiple methylation abnormalities associated with certain imprinting or triplet repeat conditions. This test can also identify disease-specific methylation patterns involving multiple loci across the genome.
Assessment of these distinct methylation patterns can be a useful screening tool for these disorders in the diagnostic work-up or can be applied in a more targeted fashion to help resolve variants of uncertain clinical significance.
Version 4 launched February 2023 increasing the number to more than 70 identifiable disorders.
Episign is offered as two different tests to suit the needs of your patient.
EpiSign Complete v.4
A comprehensive analysis including 70 disorders.
EpiSign Variant
A targeted review of the methylation data intended to resolve variants of uncertain clinical significance.