First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions.
Elia SchlaichWouter H G HubensEggermann ThomasPublished in: Molecular genetics & genomic medicine (2023)
We show for the first time that MS-ddPCR is a reliable and easy applicable method for determination of MS-associated changes in imprinting disorders. It is therefore an additional tool for multimethod diagnostics of imprinting disorders suitable to improve the diagnostic yield.