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

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noon...

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