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.
Skeletal Dysplasias
Gene panel testing for patients affected with a form of skeletal dysplasia. This is a pilot EQA, places are limited, complete the form to express interest in participation (see participant information section).
Spinal Muscular Atrophy (SMA)
SMN1/SMN2 copy number testing for patients with spinal muscular atrophy.
Stickler syndrome
Collagen gene (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2) testing for patients with Stickler syndrome and familial cases.