Prader-Willi and Angelman Syndromes (PW / AS)
Methylation and copy number analysis for Prader-Willi and Angelman Syndromes (PW / AS) (Germline DNA)
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 Endocrine Cancer (HEC) (MEN2)
Testing for hereditary endocrine cancer. This EQA has options for for MEN2 or gene panel testing and panel testing.
Hereditary Haemochromatosis (HFE)
HFE testing for Hereditary Haemochromatosis (Germline DNA)
Hereditary Hearing Loss
Testing for Hereditary Hearing Loss. This EQA has options for panel testing and targeted DFNB1 (GJB2 and GJB6) testing