Urothelial / bladder cancer (FGFR SNV/fusion testing) [Tissue]
Applicable to all labs undertaking molecular FGFR3 gene testing for this cancer type using FFPE tissue.
Rare Neuromuscular Disease gene panel
Applicable to labs that undertake NGS-based testing for this group of disorders (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)
Prostate cancer (PARPi) [Plasma, cfDNA]
Pilot EQA scheme. Applicable to any lab undertaking molecular testing of BRCA1 and BRCA2 in the context of PARPi prescription, using cfDNA from plasma.
MT-RNR1 POCT
Applicable to all labs undertaking point-of-care molecular testing of MT-RNR1 for avoidance of aminoglyocside induced hearling loss in neonates.
DNA SEQUENCING – NGS (Germline) CNV testing
Applicable to any labs using NGS as part of their germline CNV testing process. Pilot EQA Scheme.
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.
