Greenwood Genetic Center

GGC Launches EpiSign, a Novel Clinical Test for Epigenetic Changes

GREENWOOD, SC – Greenwood Diagnostic Laboratories at the Greenwood Genetic Center, in collaboration with London Health Sciences Centre (LHSC), announce the launch of a new diagnostic test focused on disease-specific epigenetic signatures. The test, EpiSign, which is performed on a peripheral blood sample, analyzes DNA methylation patterns of the genome to establish a diagnosis or help resolve variants of uncertain significance (VUS) found through DNA testing.
 
To date, combined efforts have identified unique methylation patterns, known as epigenetic signatures, for 19 genetic disorders 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.

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