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Epigenetics

Epigenetics for Diagnostic purpose: 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.

Order Episign: one Assay, three options.

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

  • EpiSign Complete
    A comprehensive analysis including late onset disorders [EPI] (Test code AUA00001) and includes all 21 disorders.
  • EpiSign Complete
    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).