Episign: Epigenetics for diagnostic purposes.
Order Episign: one Assay, three options.
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 21 disorders.
- EpiSign Complete excl late onset disorders
A comprehensive analysis excluding late onset disorders [EPI] (Test code AUA00002) and includes 20 disorders.
- EpiSign Variant
A targeted review of the methylation data intended to resolve variants of uncertain clinical signficance [EPI] (Test code AUA00003).
Epigenetic signatures for 21 genetic disorders can be identified, including 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.