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. Additionally, EpiSign Variant may be ordered when the provider has a strong clinical suspicion for a condition included on EpiSign, but previous genetic testing has been negative.
EpiSign Variant can be requested to include all imprinting disorders if multiple conditions are in the patient’s differential or if you suspect multilocus imprinting disturbance (MLID).
Click on the brochure and the EpiSign FAQ for additional details: