Targeted-NGS of aortopathies patients
Targeted Next-Generation Sequencing (tNGS) using a panel of 15 prioritized genes associated with aortic diseases (ACTA2, COL3A1, FBN1, LOX, MFAP5, MYH11, MYLK, PRKG1, SMAD3, TGFB2, TGFBR1, TGFBR2, EFEMP2, SMAD2, FOXE3). Genomic libraries were prepared from 10 ng genomic DNA from peripheral blood using the Ion AmpliSeq for Chef DL8 kit on the Ion Chef. The libraries underwent emulsion PCR using the Ion PGM Hi-Q View Chef 400 kit, loaded onto Ion 318 semiconductor chips, and sequenced on the Ion Torrent PGM platform.