Pharmacogenetics (DPYD / UGT1A1 only)
DPYD and/or UGT1A1 pharmacogenetic testing for drug response and efficacy (Germline DNA).
Pharmacogenetics (panel testing)
Pharmacogenetic panel testing of markers for drug response and efficacy (Germline DNA).
Ovarian, Breast, Prostate and Pancreatic Cancers (PARPi) [DNA, Germline]
BRCA1 and BRCA2 testing for Ovarian, Breast, prostate and pancreatic cancer (Germline DNA) in the context of PARP inhibitor prescription. This EQA is sponsored.
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.
Monogenic Diabetes
GCK, HNF1A, HNF1B and HNF4A testing for Mongenic Diabetes (germline DNA)
Mitochondrial DNA disorders
Testing for variants in the mitochondrial genome for the following mitochondrial disorders: MELAS, NARP, LHON, MERRF, Leigh syndrome, and Pearson syndrome.