Clinical performance evaluation of the Idylla™ EGFR Mutation Test on formalin-fixed paraffin-embedded tissue of non-small cell lung cancer

Table 7 Results of discordance analysis and conclusions of the root cause

	Therascreen® V2	Idylla™	NGS	ddPCR	Fragmentation	Result/ Root case
1	Wild type	T790M	T790M	Wild type for T790M	No	Confirmed with NGS
2	Wild type	S768I	ND^a	ND^a	ND	No leftover material for analysis
3	G719X	Wild type	G719X^b	low input	Yes	Sample quality (fragmentation) + low sample input
4	DelEx19	Wild type	p.Glu746_Al a750del	low input	No	Low sample input + low allelic frequency in NGS (6%)
4	T790M	Wild type	wild type	low input	No	Low sample input
5	L858R	Wild type	L858R	low input	No	Low sample input
6	L858R	Wild type	ND^a	low input	yes	Sample quality (fragmentation) + low sample input
7	L858R	L858R	ND^a	low input	No	Low sample input, insufficient material for NGS
7	T790M	L858R	ND^a	wild type for T790M	No	Low sample input, insufficient material for NGS
8	DelEx19	DelEx19	DelEx19	DelEx19 not tested	No	Concordant result
8	Wild type	S768I	wild type	6,7% S768I	No	Low allelic frequency (as confirmed with ddPCR)
9	DelEx19	T790M	ND^a	Wild type for Del15 & Del 18	No	Confirmed with ddPCR, insufficient material for NGS
9	T790M	T790M	ND^a	6,2% T790M	No	Confirmed with ddPCR, insufficient material for NGS

^a Not enough material available; ^b Variant Allele Frequency below LOD and present in only one of two amplicons covering the variant position; ND Not determined

ISSN: 1471-2407