Urothelial/bladder cancer (FGFR SNV/fusions) [Tissue]
FGFR3 testing (SNVs and gene fusions) in Urothelial / Bladder cancer (FFPE)
Pan-Tumour Fusions [FFPE]
Fusion gene testing for fusions relevant to therapy (ALK, ROS1, RET, NTRK1, NTRK2, NTRK3, FGFR1, FGFR2, or FGFR3) for solid cancers (FFPE)
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.
Rare Neurological Disease (RND) Gene Panel
NGS gene panel testing for Rare Neurological Diseases (Germline DNA) (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)
Hereditary Cystic Kidney Disease (ADPKD)
PKD1 / PKD2 and panel testing for patients with Hereditary Cystic Kidney Disease. This EQA has options for targeted testing and panel testing (germline DNA testing).