Greenwood Diagnostic Laboratories in partnership with London Health Science Centre present EpiSign!
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 3 launched in June 2021 increasing the number to more than 50 identifiable disorders.
One Assay. Two Options.
Episign is offered as two different tests to suit the needs of your patient.
EpiSign Variant A targeted review of the methylation data intended to resolve variants of uncertain clinical signficance.
When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her.
Calls were made to Greenwood Genetic Center to confirm her diagnosis and guide her care. Dr. Champaigne and Ami...