Episign: Epigenetics for diagnostic purposes.
EpiSign is a diagnostic assay to identify syndromes by assessing genome-wide methylation. See Episign on ASHG TV 2019:
Assessment of 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.
Order Episign: one Assay, three options.
Episign is offered as three different tests to suit the needs of your patient.
- EpiSign Complete incl late onset disorders
A comprehensive analysis including late onset disorders [EPI] (Test code AUA00001) and includes all 21 disorders.
- EpiSign Complete excl late onset disorders
A comprehensive analysis excluding late onset disorders [EPI] (Test code AUA00002) and includes all 21 disorders.
- EpiSign Variant
A targeted review of the methylation data intended to resolve variants of uncertain clinical signficance [EPI] (Test code AUA00003).