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Episign: Epigenetics for diagnostic purposes.

See Episign on  ASHG  TV 2019:


Order Episign: one Assay, three options.

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

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.

This technology provides information on epigenetic changes, a new level of analysis beyond the genome. Bekim Sadikovic