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What You Need to Know About EpiSign?

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Greenwood Genetic Center
What You Need to Know About EpiSign?

Greenwood Diagnostic Laboratories in partnership with London Health Science Centre present EpiSign!


EpiSign is the first clinical 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 via a targeted analysis of the associated gene or region. 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 5 launched February 2024 increasing the number to more than 90 identifiable disorders.


One Assay. Two Options.


Episign is offered as two different tests to suit the needs of your patient.


EpiSign Complete v5


A comprehensive analysis including 90 disorders.


EpiSign is a methylation assay designed to readily identify proven and reproducible epigenetic signatures by assessing genome-wide methylation. EpiSign has multiple applications in the clinical setting. EpiSign Complete is a comprehensive analysis that includes over 90 genes and disorders indicated below.  


EpiSign Variant   


A targeted review of the methylation data intended to resolve variants of uncertain clinical significance. 


EpiSign Variant is a targeted review of the methylation data intended to resolve variants of uncertain clinical significance in genes with a known epigenetic signature (see list below). When present, this signature can be used to provide supporting evidence during variant classification of a VUS.


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