Table 2.
Common genomic aberrations and their detection rates using the custom capture next-generation sequencing (NGS) assay and fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarray, respectively.
| Aberration | FISH/SNP microarray and NGS assay | FISH/SNP microarray Unique | NGS assay Unique | Sensitivity, % (95% CI*) | Specificity, % (95% CI*) |
|---|---|---|---|---|---|
| Overall | 483 | 6 | 15 | 0.99 (0.97–1) | 0.99 (0.99–1) |
| Del(1p) | 28 | 1 | 0 | 0.97 (0.82–1) | 1 (0.97–1) |
| Gain(1q) | 55 | 1 | 0 | 0.98 (0.9–1) | 1 (0.96–1) |
| Del(6q) | 35 | 1 | 2 | 0.97 (0.85–1) | 0.98 (0.94–1) |
| Del(8p) | 33 | 0 | 2 | 1 (0.89–1) | 0.98 (0.94–1) |
| Del(13q) | 77 | 1 | 0 | 0.99 (0.93–1) | 1 (0.95–1) |
| Del(14q) | 40 | 0 | 5 | 1 (0.91–1) | 0.96 (0.9–0.99) |
| Del(16q) | 42 | 0 | 3 | 1 (0.92–1) | 0.97 (0.93–0.99) |
| Del(17p) | 26 | 0 | 2 | 1 (0.87–1) | 0.98 (0.95–1) |
| HRD | 73 | 0 | 0 | 1 (0.95–1) | 1 (0.96–1) |
| t(4;14) | 13 | 0 | 0 | 1 (0.75–1) | 1 (0.97–1) |
| t(6;14) | 1 | 0 | 0 | 1 (0.03–1) | 1 (0.98–1) |
| t(8;14) | 8 | 2 | 1 | 0.8 (0.44–0.97) | 0.99 (0.96–1) |
| t(11;14) | 48 | 0 | 0 | 1 (0.93–1) | 1 (0.97–1) |
| t(14;16) | 2 | 0 | 0 | 1 (0.16–1) | 1 (0.98–1) |
| t(14;20) | 2 | 0 | 0 | 1 (0.16–1) | 1 (0.98–1) |
FISH fluorescent in situ hybridization, SNP single-nucleotide polymorphism, NGS next-generation sequencing, CI confidence interval, HRD hyperdiploidy