Homologous Recombination Deficiency (HRD) testing in ovarian cancer [Tissue]
HRD testing for Ovarian Cancer (Tissue). 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).
Retinoblastoma (RB)
RB1 testing for patients with retinoblastoma and familial cases.
Rare Neurological Disease (RND) Gene Panel
NGS gene panel testing for Rare Neurological Diseases (Germline DNA) (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)
RYR1 related Myopathies and Malignant Hyperthermia susceptibility
RYR1 testing for RYR1 related Myopathies and Malignant Hyperthermia susceptibility (Germline DNA)