MT-RNR1 POCT

Point-of-care molecular testing (POCT) of MT-RNR1 for avoidance of aminoglyocside induced hearling loss in neonates (Artificial Buccal swabs)

BRCA and HRR gene variants Competency Module

Individual competency assessment for classification of BRCA1, BRCA2 and HRR gene variants. Two runs per year in collaboration with GenQA. See https://genqa.org/BRCA-HRR for registration details.

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 somatic SNVs and indels – tumour testing only

EQA for quality of NGS for somatic SNVs and indels <50bp (FFPE). For NGS NOT requiring a matched normal control germline sample (single gene, panel testing, whole exome sequencing or whole genome sequencing). Pilot EQA.