Summary of clinical genetic/genomic analysis studies
| Population . | Year . | Type of genetic/genomic analysis . | No. of genes . | DY, % . |
|---|---|---|---|---|
| Pediatric | 2017 | WES backbone for patients with suspected inherited platelet disorder54 | 53 | 23.8 |
| 2020 | WES backbone as second-line investigation tool for patients with suspected inherited bleeding disorders55 | 94 | 16.7 | |
| 2023 | WES backbone as first-line investigation tool for patients with suspected inherited bleeding disorders56 | 290 | 94 | |
| PFD | 2018 | HTS multigene panel for patients with suspected inherited platelet disorders45 | 72 | 70 |
| 2018 | HTS multigene panel for patients with suspected but undefined inherited platelet disorders57 | 59 | 26 | |
| BDUC | 2018 | WES backbone done at end of diagnostic pathway for patients without a diagnosis58 | 126 | 17 |
| 2022 | WGS backbone at end of diagnostic pathway for patients without a diagnosis and bleeding score of >959 | 113 | 10 | |
| 2023 | HTS multigene panel (UK R90 panel) for patients with BDUC or patients with nonimmune thrombocytopenia53 | 90 | 33.5 | |
| All types | 2017 | WES backbone as first-line investigation tool to direct specific functional testing60 | 87 | 29 |
| 2019 | HTS multigene panel (TG versions 2.0 and 3.0) for patients referred for bleeding assessment43 | 80/96 | 49.2 | |
| 2022 | WES in patients with known or suspected inherited bleeding disorders48 | 99 | 58 | |
| 2024 | WES for patients with known inherited bleeding disorders61 | 156 | 85 |
| Population . | Year . | Type of genetic/genomic analysis . | No. of genes . | DY, % . |
|---|---|---|---|---|
| Pediatric | 2017 | WES backbone for patients with suspected inherited platelet disorder54 | 53 | 23.8 |
| 2020 | WES backbone as second-line investigation tool for patients with suspected inherited bleeding disorders55 | 94 | 16.7 | |
| 2023 | WES backbone as first-line investigation tool for patients with suspected inherited bleeding disorders56 | 290 | 94 | |
| PFD | 2018 | HTS multigene panel for patients with suspected inherited platelet disorders45 | 72 | 70 |
| 2018 | HTS multigene panel for patients with suspected but undefined inherited platelet disorders57 | 59 | 26 | |
| BDUC | 2018 | WES backbone done at end of diagnostic pathway for patients without a diagnosis58 | 126 | 17 |
| 2022 | WGS backbone at end of diagnostic pathway for patients without a diagnosis and bleeding score of >959 | 113 | 10 | |
| 2023 | HTS multigene panel (UK R90 panel) for patients with BDUC or patients with nonimmune thrombocytopenia53 | 90 | 33.5 | |
| All types | 2017 | WES backbone as first-line investigation tool to direct specific functional testing60 | 87 | 29 |
| 2019 | HTS multigene panel (TG versions 2.0 and 3.0) for patients referred for bleeding assessment43 | 80/96 | 49.2 | |
| 2022 | WES in patients with known or suspected inherited bleeding disorders48 | 99 | 58 | |
| 2024 | WES for patients with known inherited bleeding disorders61 | 156 | 85 |
DY, diagnostic yield; PFD, platelet function disorder.