Table 2. Details on test methodologies applied by participant laboratories.
| Laboratory | Primary test strategy |
NGS platform |
Method | |
| Lab 1 | Sequencing (NGS) | Illumina | HiSeq2500 | Hybridisation selection (TruSight Cancer Panel (Illumina)) |
| Lab 2 | Sequencing (NGS) | Illumina | NextSeq500 | Hybridisation selection (TruSight Cancer Panel (Illumina)) |
| Lab 3 | Sequencing (NGS) | Illumina | MiSeq | Long amplicon (Lab Developed Test) |
| Lab 4 | Sequencing (NGS) | Illumina | MiSeq | Long amplicon (Lab Developed Test) |
| Lab 5 | Sequencing (NGS) | Illumina | MiSeq | Short amplicon (BRCA1/BRCA2/TP53 kit (Fluidigm)) |
| Lab 6 | Sequencing (NGS) | Illumina | MiSeq | Hybridisation selection (Lab Developed Test (Haloplex)) |
| Lab 7 | Sequencing (NGS) | Illumina | MiSeq | Short amplicon (BRCA MASTR Dx (Multiplicom)) |
| Lab 8 | Sequencing (NGS) | Illumina | MiSeq | Short amplicon (BRCA MASTR Dx (Multiplicom)) |
| Lab 9 | Sequencing (NGS) | Illumina | MiSeq | Hybridisation selection (Lab Developed Test) |
| Lab 10 | Sequencing (NGS) | Illumina | MiSeq | Hybridisation selection (SureSelect (Illumina)) |
| Lab 11 | Sequencing (NGS) | Life Technologies 1 | IonPGM | Short amplicon (Ion AmpliSeq BRCA1 and BRCA2 Panel (Life Technologies)) |
| Lab 12 | Sequencing (NGS) | Life Technologies | IonPGM | Short amplicon (Ion AmpliSeq BRCA1 and BRCA2 Panel (Life Technologies)) |
| Lab 13 | Sequencing (NGS) | Life Technologies | IonPGM | Short amplicon (BRCA MASTR Dx (Multiplicom)) |
| Lab 14 | Sequencing (NGS) | Roche Diagnostics | GS Junior | Short amplicon (BRCA MASTR Dx (Multiplicom), Multiplicom BRCA HP (Multiplicom)) |
| Lab 15 | Sequencing (NGS) | Roche Diagnostics | GS Junior | Short amplicon (BRCA MASTR Dx (Multiplicom)) |
| Lab 16 | HRM, dHPLC | NA | NA | NA |
| Lab 17 | HRM | NA | NA | NA |
| Sequencing (Sanger) | ||||
| Lab 18 | Sequencing (Sanger) | NA | NA | NA |
| Lab 19 | Sequencing (Sanger) | NA | NA | NA |
| Lab 20 | Sequencing (Sanger) | NA | NA | NA |
Abbreviations: dHPLC=denaturing high performance liquid chromatography; HRM=high resolution melting; NA=not applicable; NGS=next-generation sequencing.