Pharmacogenetics (panel testing)
Applicable to all labs undertaking panel based molecular testing of pharmacogenetic markers for drug response and efficacy.
DNA SEQUENCING – NGS (Somatic SNVs and Indels – no matched germline sample)
Applicable to any labs using NGS (not requiring a matched normal control sample) as part of their somatic testing process. This is a pilot EQA.
DNA SEQUENCING – NGS (Germline SNVs and indels)
Applicable to any labs using NGS as part of their germline testing process.
DNA SEQUENCING – NGS (Germline) CNV testing
Applicable to any labs using NGS as part of their germline CNV testing process. Pilot EQA Scheme.
Hereditary Breast / Ovarian cancer (HBOC) (germline)
Applicable to labs that undertake germline testing for this group of disorders
Hereditary Haemochromatosis (HFE)
Applicable to all labs undertaking molecular genetic testing for this disorder.
