UPDATE Epigenetic EpiSign tests: to establish a diagnosis or help resolve variants of uncertain significance (VUS) for 42 genetic syndromes.
The successful EpiSign tests have had an incredible update for diagnostic purposes. The identification of 34 robust disease-specific episignatures of 42 genetic syndromes can be diagnosed with a single test. This test more than doubles the number of published syndromes with DNA methylation episignatures and opens new avenues for accurate diagnosis and clinical assessment in individuals affected by these 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.
Epigenetic EpiSign explained on ASHG tv: