Table 6.
The use of the testing method in the national KidGen cohort stratified by a year of testing
| Yr | Testing method number (%) |
||||||||
|---|---|---|---|---|---|---|---|---|---|
| CMA | Targeted panel | Sanger | TE | VNTR | WES | WGS | Not specified | Total | |
| 2013 | 0 (0.0) | 6 (20.7) | 7 (24.1) | 4 (13.8) | 0 (0.0) | 4 (13.8) | 1 (3.4) | 7 (24.1) | 29 (100.0) |
| 2014 | 1 (1.2) | 6 (7.2) | 18 (21.7) | 24 (28.9) | 1 (1.2) | 2 (2.4) | 0 (0.0) | 31 (37.3) | 83 (100.0) |
| 2015 | 3 (3.9) | 7 (9.1) | 7 (9.1) | 27 (35.1) | 0 (0.0) | 2 (2.6) | 0 (0.0) | 31 (40.3) | 77 (100.0) |
| 2016 | 8 (4.5) | 15 (8.4) | 6 (3.4) | 53 (29.6) | 1 (0.6) | 12 (6.7) | 10 (5.6) | 74 (41.3) | 179 (100.0) |
| 2017 | 6 (2.0) | 9 (3.0) | 14 (4.7) | 78 (26.0) | 2 (0.7) | 67 (22.3) | 24 (8.0) | 100 (33.3) | 300 (100.0) |
| 2018 | 11 (3.7) | 8 (2.7) | 16 (5.4) | 40 (13.6) | 2 (0.7) | 63 (21.4) | 36 (12.2) | 118 (40.1) | 294 (100.0) |
| 2019 | 7 (5.6) | 6 (4.8) | 4 (3.2) | 31 (25.0) | 0 (0.0) | 4 (3.2) | 20 (16.1) | 52 (41.9) | 124 (100.0) |
| 2020 | 0 (0.0) | 0 (0.0) | 1 (25.0) | 2 (50.0) | 0 (0.0) | 1 (25.0) | 0 (0.0) | 0 (0.0) | 4 (100.0) |
| 2021 | 1 (0.8) | 0 (0.0) | 8 (6.3) | 32 (25.2) | 2 (1.6) | 28 (22.0) | 51 (40.2) | 5 (3.9) | 127 (100.0) |
| 2022 | 4 (4.5) | 0 (0.0) | 11 (12.5) | 17 (19.3) | 2 (2.3) | 28 (31.8) | 21 (23.9) | 5 (5.7) | 88 (100.0) |
| Totala | 41 (3.1) | 57 (4.4) | 92 (7.0) | 308 (23.6) | 10 (0.8) | 211 (16.2) | 163 (12.5) | 423 (32.4) | 1305 (100.0) |
CMA, chromosome microarray analysis; Not specified, sequencing type not indicated; Sanger, Sanger sequencing, also known as the “chain termination method;” Targeted panel, using massively parallel sequencing (MPS); TE, targeted clinical exome sequencing with virtual panel; VNTR, variable number tandem repeat of the mucin 1 (MUC1) gene; WES whole exome sequencing (with virtual panel); WGS, whole-genome sequencing (with virtual panel).
a
A test was not performed, results were unreturned, or the year of testing was not specified in 201 patients.