Table 3.
Testing rate by genetic testing modality
| Total | 2018 | 2022–2023 | p-value | ||
|---|---|---|---|---|---|
| (N = 421) | (N = 190) | (N = 231) | |||
| cfDNA | <0.001 | ||||
| Yes | 48 (11.4%) | 5 (2.6%) | 43 (18.6%) | ||
| No | 373 (88.6%) | 185 (97.4%) | 188 (81.4%) | ||
| Chromosome Analysis | 0.701 | ||||
| Yes | 55 (13.1%) | 23 (12.1%) | 32 (13.9%) | ||
| No | 366 (86.9%) | 167 (87.9%) | 199 (86.1%) | ||
| FISH | 0.476 | ||||
| Yes | 8 (1.9%) | 5 (2.6%) | 3 (1.3%) | ||
| No | 413 (98.1%) | 185 (97.4%) | 228 (98.7%) | ||
| CMA | <0.001 | ||||
| Yes | 167 (39.7%) | 126 (66.3%) | 41 (17.7%) | ||
| No | 254 (60.3%) | 64 (33.7%) | 190 (82.3%) | ||
| Single Gene Testing | >0.999 | ||||
| Yes | 2 (0.5%) | 1 (0.5%) | 1 (0.4%) | ||
| No | 419 (99.5%) | 189 (99.5%) | 230 (99.6%) | ||
| Panel | <0.001 | ||||
| Yes | 47 (11.2%) | 7 (3.7%) | 40 (17.3%) | ||
| No | 374 (88.8%) | 183 (96.3%) | 191 (82.7%) | ||
| Exome Sequencing | 0.067 | ||||
| Yes | 24 (5.7%) | 6 (3.2%) | 18 (7.8%) | ||
| No | 397 (94.3%) | 184 (96.8%) | 213 (92.2%) | ||
| Rapid Genome Sequencing | <0.001 | ||||
| Yes | 90 (21.4%) | 1 (0.5%) | 89 (38.5%) | ||
| No | 331 (78.6%) | 189 (99.5%) | 142 (61.5%) | ||
| Other | 0.706 | ||||
| Yes | 7 (1.7%) | 4 (2.1%) | 3 (1.3%) | ||
| No | 414 (98.3%) | 186 (97.9%) | 228 (98.7%) |
Abbreviations: cfDNA, cell-free DNA; CMA, chromosome microarray; FISH, fluorescence in situ hybridization