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.
Osteogenesis imperfecta (OI)
COL1A1 and COL1A2 testing for patients with osteogenesis imperfecta and familial cases.
Porphyrias
Molecular genetic testing for patients with porphyria and familial cases (group of eight disorders of the heme biosynthesis pathway, as defined by Ipnet).
Prader-Willi and Angelman Syndromes (PW / AS)
Methylation and copy number analysis for Prader-Willi and Angelman Syndromes (PW / AS) (Germline DNA)