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