Table 1.
Studies reporting diagnostic rates of tES across different clinical indications, some providing within-cohort comparisons to sES yield
| Ref | Setting | N | Clinical indication | Total dx rate | Singleton dx rate | Trio dx rate |
|---|---|---|---|---|---|---|
| Lee et al. [6] | UCLA | 814 | Undiagnosed, suspected genetic disorder | 213/814 (26%) | 74/338 (22%) | 127/410 (31%) |
| Soden et al. (2014) | Children’s Mercy Kansas (±rapid WGS) | 100 | Neurodevelopmental | 45/100 (45%) | N/A | N/A |
| Farwell et al. [3] | Ambry diagnostic lab; molecular geneticist + genetic counsellor curation | 500 | Multiple; mostly paediatric neurological, multiple congenital anomalies | 152/500 (30.4%) | 14/68 (20.6%) | 82/220 (37.3%) |
| Reterrer et al. (2015) | GeneDx diagnostic lab | 3040 | Multiple; paediatric and adult | 875/3040 (28.8%) | 128/542 (23.6%) | 647/2088 (31%) |
| Zhu et al. (2015) | Duke University MC | 119 | ‘Severe’ genetic disorders | 29/119 (24.4%) | N/A | N/A |
| Monroe et al. (2015) | Utrecht MC | 17 | Intellectual disability | 5/17 (29.4%) | N/A | N/A |
| Monies et al. [15] | Saudi Arabia NGS reference lab | 1013 | Broad range; panels, exome sequencing | 149/347 exomes (43%) | 138/321 (43%) | 9/17a (53%) |
apersonal communication, F Alkuraya