Urothelial / bladder cancer (FGFR SNV/fusion testing) [Tissue]
Applicable to all labs undertaking molecular FGFR3 gene testing for this cancer type using FFPE tissue.
Porphyrias
Applicable to all labs undertaking molecular genetic testing in this group of disorders.
Systemic Autoinflammatory Diseases
Applicable for all labs undertaking molecular genetic testing for this group of disorders.
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)
Oncogene panel testing [Tissue]
This EQA scheme is offered to help laboratories using high through put technologies (e.g., NGS, MassArray etc.) to accurately validate assay sensitivity and specificity. For specific tumour types, please register for the relevant scheme (e.g., Lung, Melanoma, Colorectal, Ovarian, Breast, Prostate, Pancreas). High quality reference materials are provided covering a range of genes with variants with ddPCR quantified allelic frequencies.
Ovarian, breast, prostate and pancreatic cancers (PARPi) [DNA, Germline]
Applicable to any lab undertaking germline molecular testing of BRCA1 and BRCA2 genes in the context of PARPi prescription, using genomic DNA.
