Targeted gene panel design
Diagnostic gene panel was developed on the Ion Torrent platform (Thermo Fisher Scientific).
The custom panel includes 46 genes involved in the pathogenesis of agammaglobulinemia, CVID and IEI immune-dysregulation disorders (Table 1-A/1-B) based on the last update of the ESID classification11,12.
The amplicon design was expected to cover 99.97% of the 182,523 kb targeted exons with 942 amplicons. For each exon a six bp of padding was included.