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).
Huntington disease (HD)
HTT gene testing for Huntington disease (HD) (Germline DNA)
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
Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS)
Methylation and copy number analysis for BWS and SRS testing.