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)
Hereditary Breast and Ovarian Cancer (HBOC) (Germline)
BRCA1/BRCA2 or panel testing for hereditary breast and ovarian cancer (HBOC) (Germline DNA), this EQA has options for targeted or panel testing
Hereditary Cystic Kidney Disease (ADPKD)
PKD1 / PKD2 and panel testing for patients with Hereditary Cystic Kidney Disease. This EQA has options for targeted testing and panel testing (germline DNA testing).