Osteogenesis imperfecta (OI)
Applicable to all labs undertaking molecular genetic testing for this disorder.
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.
Pharmacogenetics (DPYD / UGT1A1 only)
Applicable to all labs undertaking molecular testing of DPYD and/or UGT1A1 pharmacogenetic markers for drug response and efficacy.
Pharmacogenetics (panel testing)
Applicable to all labs undertaking panel based molecular testing of pharmacogenetic markers for drug response and efficacy.
Phenylketonuria (PKU)
Applicable to all labs undertaking molecular genetic testing in this disorder.
