Table 6.
Specific key recommendations for specimen processing and analysis.
• Use validated DNA extraction protocol for FFPE that ensures appropriate quality and quantity of DNA for chosen methodology |
• Perform pre‐analytical QC of DNA samples to minimise post‐library test failures |
• Use a validated NGS assay (both amplicon‐ or capture‐based are potentially suitable) that should include entire coding regions for BRCA1 and BRCA2, with other HRR genes being assessed depending on country‐specific licence indications and reimbursement approvals |
• Perform QC of sequencing data generated according to laboratory policies and national and international guidelines [54, 55] to ensure appropriate level of coverage (see text) of all genomic regions reported by the assay |