Gene | Mean variant frequency (%) | Number of laboratories reporting WT result | Number of tests performed with no variants reported | Methodologies employed (n) |
BRAF | 2.6 | 21 | 22 | Sanger (4), Pyrosequencing (4), Cobas 4800 (5), RT-PCR (2), HRM (2)* |
EGFR | 2.6 | 3 | 6 | Sanger (1), Pyrosequencing (1), NGS/Ion Torrent (2), RT-PCR (1) |
KIT | 4.2 | 1 | 1 | Sanger (1) |
KRAS | 4.3 | 7 | 9 | Sanger (4), Pyrosequencing (2), NGS/Ion Torrent (1), RT-PCR (1), Entrogen (1) |
NRAS | 7.4 | 3 | 5 | Sanger† (2), Pyrosequencing (2), NGS/Ion Torrent (1) |
PDGFRA | 4.2 | 1 | 1 | Sanger (1) |
PIK3CA | 4.7 | 1 | 2 | Pyrosequencing (1), NGS/Ion Torrent (1) |
*In addition to those listed in the table, one laboratory used Therascreen, one laboratory used Amoy Dx BRAF Mutation Detection kit, one laboratory used Idylla, one laboratory performed NGS on an Ion Torrent platform and one laboratory did not disclose the NGS methodology used.
†Sanger sequencing.
WT, wild type.