Epigenetic tests can be requested to establish a diagnosis or help resolve variants of uncertain significance (VUS).
To date, 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.
Current diagnostic technologies such as whole exome sequencing are not able to assess non-coding and more complex variants, and cannot provide information on epigenetic changes. This technology provides a new level of analysis beyond the genome. Bekim Sadikovic