Melanoma [Tissue]
BRAF, NRAS and KIT gene testing in melanoma (FFPE).
Breast Cancer (AKT Pathway Gene Testing) [Tissue]
PIK3CA, AKT1 and PTEN gene testing in breast cancer (FFPE)
Breast Cancer (ESR1 and PIK3CA cfDNA Testing) [Plasma]
ESR1 and PIK3CA testing in cfDNA (plasma) for metastatic breast cancer. This EQA is sponsored.
Osteogenesis imperfecta (OI)
COL1A1 and COL1A2 testing for patients with osteogenesis imperfecta and familial cases.
Phenylketonuria (PKU)
PAH testing for Phenylketonuria (PKU) (Germline DNA)
Porphyrias
Molecular genetic testing for patients with porphyria and familial cases (group of eight disorders of the heme biosynthesis pathway, as defined by Ipnet).