Order Episign: one Assay, three options.
Epigentics Episign is offered as three different tests to suit the needs of your patient.
- EpiSign Complete incl late onset disorders
A comprehensive analysis including late onset disorders [EPI] (Test code AUA00001) and includes all 45 disorders.
- EpiSign Complete excl late onset disorders
A comprehensive analysis excluding late onset disorders [EPI] (Test code AUA00002) and includes 44 disorders.
- EpiSign Specific
A targeted review of the methylation data intended to resolve variants of uncertain clinical signficance [EPI] (Test code AUA00003).
Epigenetics for diagnostic purposes, read for in-dept information our publication: EpiSign AJHG 2020
Epigenetic signatures for genetic disorders can identify for example CHARGE syndrome, Cornelia de Lange syndrome, Down syndrome, Kabuki syndrome, Sotos syndrome, Williams syndrome, ATRX syndrome, autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCADN), BAFopathies (Coffin-Siris syndrome , Nicolaides-Baraitser syndrome, Chr6q25del), Claes-Jensen syndrome, Genitopatellar syndrome, Floating Harbor syndrome, ADNP-related syndrome/Hellsmoortel-VanDerAa syndrome, and Chr7q11.23dup.