Epigenetic EpiSign tests: to establish a diagnosis or help resolve variants of uncertain significance (VUS). In the pipeline EpiSign V4, ready to be launched in Novermber 2022 and will include over 80 genetic syndromes (88 in total).
The successful EpiSign tests have had an incredible update for diagnostic purposes. This test opens new avenues for accurate diagnosis and clinical assessment if individuals are affected by one of the 88 included disorders.
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. For more in-dept information read our publication EpiSign AJHG 2020 or visit the EpiSign page of our partner London Health Centre.
Epigenetic EpiSign explained on ASHG tv: