Breast Cancer (AKT Pathway Gene Testing) [Tissue]
PIK3CA, AKT1 and PTEN gene testing in breast cancer (FFPE)
Breast Cancer (ESR1 and PIK3CA cfDNA Testing) [Plasma]
ESR1 and PIK3CA testing in cfDNA (plasma) for metastatic breast cancer. This EQA is sponsored.
Comprehensive Genomic Profiling (CGP)
Identification of different types of variants and genomic signatures by CGP in solid tumour (FFPE). This is a pilot EQA (genotyping only), places are limited, complete the form to express interest in participation (see participant information section).
Lynch syndrome (hereditary non-polyposis colon cancer, HNPCC)
MSH2, MLH1, MSH6, EPCAM and PMS2 testing for patients with Lynch syndrome (hereditary non-polyposis colon cancer, HNPCC) and familial cases.
Neuromuscular Disorders
Dystrophin gene and panel testing for Rare Neuromuscular Disorders (NMD) (germline DNA). This EQA has options for targeted DMD / BMD testing and/or NMD panel testing.
Osteogenesis imperfecta (OI)
COL1A1 and COL1A2 testing for patients with osteogenesis imperfecta and familial cases.