Table 1 Comparison of diagnostic performance across different techniques.
Type of alteration | Technique | Detection rate (n/N) | Detection rate (%) | Clinically relevant (n) | Non clinically relevant (n) | Clinically relevant (%)* | p-value |
|---|---|---|---|---|---|---|---|
Chr Gains/Losses | Standard-of-care | 21/60 | 35 | 14 | 7 | 66.7 | — |
dMLPA | 31/60 | 51.7 | 19 | 12 | 61.3 | — | |
OGM | 31/60 | 51.7 | 19 | 12 | 61.3 | — | |
Standard-of-care vs. dMLPA | 21/60 vs. 31/60 | 35 vs. 51.7 | 14 vs. 19 | 7 vs. 12 | 66.7 vs. 61.3 | 0.0973 | |
Standard-of-care vs. OGM | 21/60 vs. 31/60 | 35 vs. 51.7 | 14 vs. 19 | 7 vs. 12 | 66.7 vs. 61.3 | 0.0973 | |
dMLPA vs. OGM | 31/60 vs. 31/60 | 51.7 vs 51.7 | 19 vs. 19 | 12 vs. 12 | 61.3 vs. 61.3 | 1 | |
CNA-UKALL | MLPA | 38/60 | 63.3 | 38 | 0 | 100 | — |
dMLPA | 38/60 | 63.3 | 38 | 0 | 100 | — | |
OGM | 36/60 | 60 | 36 | 0 | 100 | — | |
MLPA vs. dMLPA | 38/60 vs. 38/60 | 63.3 vs. 63.3 | 38 vs. 38 | 0 vs. 0 | 100 vs. 100 | 1 | |
MLPA vs. OGM | 38/60 vs. 36/60 | 63.3 vs. 60 | 38 vs. 36 | 0 vs. 0 | 100 vs. 100 | 0.8510 | |
dMLPA vs. OGM | 38/60 vs. 36/60 | 63.3 vs. 60 | 38 vs. 36 | 0 vs. 0 | 100 vs. 100 | 0.8510 | |
CNAs | dMLPA | 37/60 | 61.7 | 2 | 35 | 5.4 | — |
OGM | 38/60 | 63.3 | 2 | 36 | 5.3 | — | |
dMLPA vs. OGM | 37/60 vs. 38/60 | 61.7 vs. 63.3 | 2 vs. 2 | 35 vs. 36 | 5.4 vs. 5.3 | 0.9999 | |
Fusions# | Standard-of-care | 18/60 | 30 | 13 | 5 | 72.2 | — |
OGM | 34/60 | 56.7 | 26 | 8 | 76.5 | — | |
t-NGS | 18/60 | 30 | 18 | 0 | 100 | — | |
RNAseq | 16/20 | 80 | 13 | 3 | 81.3 | — | |
Standard-of-care vs. OGM | 18/60 vs. 34/60 | 30 vs. 56.7 | 13 vs. 26 | 5 vs. 8 | 72.2 vs. 76.5 | 0.0057 | |
Standard-of-care vs. t-NGS | 18/60 vs. 18/60 | 30 vs. 30 | 13 vs. 13 | 5 vs. 0 | 72.2 vs. 100 | 1 | |
Standard-of-care vs. RNAseq | 18/60 vs. 16/20 | 30 vs. 80 | 13 vs. 13 | 5 vs. 3 | 72.2 vs. 81.3 | <0.0001 | |
OGM vs. t-NGS | 34/60 vs. 18/60 | 56.7 vs. 30 | 26 vs. 18 | 8 vs. 0 | 76.5 vs. 100 | 0.0057 | |
OGM vs. RNAseq | 34/60 vs. 16/20 | 56.7 vs 80 | 26 vs. 13 | 8 vs. 3 | 76.5 vs. 81.3 | 0.0107 | |
t-NGS vs. RNAseq | 18/60 vs. 16/20 | 30 vs. 80 | 18 vs. 13 | 0 vs. 3 | 100 vs. 81.3 | <0.0001 | |
SNV/Indels | t-NGS | 52/60 | 86.7 | 0 | 52 | 0 | 1 |
