Now available from June 2019 for clinical diagnosis: a new diagnostic test focused on disease-specific epigenetic signatures: Episign. EpiSign is performed on a peripheral blood sample and can analyze DNA methylation patterns of the genome to establish a diagnosis or help resolve variants of uncertain significance (VUS). Episign is performed as a collaboration of Amsterdam UMC, the Netherlands and London Health Sciences Centre, Canada.
To date, combined efforts have identified unique methylation patterns, known as epigenetic signatures, for 21 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.
“Current diagnostic technologies such as microarray and whole exome sequencing are not able to assess non-coding and more complex variants, and cannot provide information on epigenetic changes,” said Bekim Sadikovic, PhD, DABMG FACMG, Division Head, Molecular Diagnostics, LHSC; and Associate Professor, PaLM, Western University, who leads the epigenetic signature research. “This technology provides a new level of analysis beyond the genome.”