The ThromboGenomics TG.V2 and TG.V3 HTS test content, experimental methods, analysis methods, and variant interpretation guidelines
| . | TG.V2 . | TG.V3 . |
|---|---|---|
| Panel content | 19 Coagulation genes | 21 Coagulation genes |
| 8 Thrombotic genes | 9 Thrombotic genes | |
| 53 Platelet genes | 66 Platelet genes | |
| HGMD Pro 2015.2 variants | HGMD Pro 2016.4 variants | |
| 10 000 SNVs | ||
| Region of interest | 0.222 Mb | 0.275 Mb |
| Methods | DNA fragmentation: 220 bp | DNA fragmentation: 350 bp |
| Multiplex: 48 samples | Multiplex: 96 samples | |
| Known variants | HGMD_PRO_2017.2 | HGMD_PRO_2017.4 and curated known variants |
| Variant interpretation | MDT criteria (supplemental Table 4) | ACMG guidelines10 |
| . | TG.V2 . | TG.V3 . |
|---|---|---|
| Panel content | 19 Coagulation genes | 21 Coagulation genes |
| 8 Thrombotic genes | 9 Thrombotic genes | |
| 53 Platelet genes | 66 Platelet genes | |
| HGMD Pro 2015.2 variants | HGMD Pro 2016.4 variants | |
| 10 000 SNVs | ||
| Region of interest | 0.222 Mb | 0.275 Mb |
| Methods | DNA fragmentation: 220 bp | DNA fragmentation: 350 bp |
| Multiplex: 48 samples | Multiplex: 96 samples | |
| Known variants | HGMD_PRO_2017.2 | HGMD_PRO_2017.4 and curated known variants |
| Variant interpretation | MDT criteria (supplemental Table 4) | ACMG guidelines10 |