Postnatal Constitutional CNV Detection
Applicable to all labs undertaking Postnatal Constitutional CNV Detection using array based, or NGS approaches.
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.
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.
Ovarian and Prostate Cancer (PARPi) [Tissue, Somatic]
Applicable to any lab undertaking somatic molecular testing of BRCA1, BRCA2 and other Homologous Recombination Repair (HRR) genes in the context of PARPi prescription, using FFPE tissue.
