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Providing Answers from Beyond the Genome

The first clinically validated diagnostic test utilizing peripheral blood to assess whole genome methylation.
Provides tier-1 screen for imprinting, developmental disabilities/intellectual delays and congenital anomalies.
Improves diagnostic yield as a new modality of testing for variants of unknown significance (VUS).
Patient results analyzed utilizing “the largest epigenetic database, the EpiSign Knowledge Database”

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EpiSign has multiple applications in the clinical setting by providing an additional diagnostic testing modality beyond the current sequencing and copy number technology model. Utilizing peripheral blood, patients’ methylation data is screened to determine if they possess a similar episignature to a defined syndrome episignature within the EpiSign Knowledge Database. Episignature: a recurring and reproducible DNA methylation pattern, or biomarker, associated with a specific genetic disorder.        


Research to discover DNA methylation patterns, or episignatures, for new conditions and disorders is ongoing. Dr. Sadikovic and his team are working to expand the clinical utlility of EpiSign, while studying the use of episignatures for diagnosis and phenotypic correlations in multiple disorders.

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EpiSign-CAN is the first National clinical trial of its kind, with the ultimate goal of measuring the clinical impact of the EpiSign test within Canada. EpiSign-CAN provides access to EpiSign for patients who are in the first steps of searching for a genetic cause to their syndrome and to patients who are still in the diagnostic odyssey despite extensive genetic testing.


“In child neurology, there is a large number of kids who have neurodevelopmental disorders that we are not able to diagnose quickly. For many of these kids there is a long diagnostic odyssey that is a really difficult journey for patients and their families to go through before we reach that moment where we can provide a definitive reason, or condition, that explains why they are experiencing these developmental differences. And in fact, having something tangible like a disease name or label, is really important for these families. EpiSign is an additional tool that allows us to look past the patient’s genome, to their epigenome, and narrow down the genetic cause of their condition. This can help shorten the diagnostic odyssey for many patients.”

– Dr. Craig Campbell