Pharmacogenetics (panel testing)
Pharmacogenetic panel testing of markers for drug response and efficacy (Germline DNA).
Pharmacogenetics (DPYD / UGT1A1 only)
DPYD and/or UGT1A1 pharmacogenetic testing 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.
Mitochondrial DNA disorders
Testing for variants in the mitochondrial genome for the following mitochondrial disorders: MELAS, NARP, LHON, MERRF, Leigh syndrome, and Pearson syndrome.
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.