Pharmacogenetics (DPYD / UGT1A1 only)
DPYD and/or UGT1A1 pharmacogenetic testing for drug response and efficacy (Germline DNA).
Pharmacogenetics (panel testing)
Pharmacogenetic panel testing of markers for drug response and efficacy (Germline DNA).
Ovarian, Breast, Prostate and Pancreatic Cancers (PARPi) [DNA, Germline]
BRCA1 and BRCA2 testing for Ovarian, Breast, prostate and pancreatic cancer (Germline DNA) in the context of PARP inhibitor prescription. This EQA is sponsored.
NGS for germline CNVs pilot
EQA for quality of NGS for CNVs >50bp (Germline DNA). For whole exome or genome sequencing. Pilot EQA Scheme.
NGS for germline SNVs and indels
EQA for quality of NGS for SNVs and indels <50bp (Germline DNA). For any NGS strategy (single gene, panel testing, whole exome sequencing or whole genome sequencing).
NGS for somatic SNVs and indels – tumour with germline subtraction analysis
EQA for quality of NGS for somatic SNVs and indels <50bp (FFPE). For NGS requiring a matched normal control germline sample (single gene, panel testing, whole exome sequencing or whole genome sequencing). Pilot EQA.