Postnatal Constitutional CNV Detection
Postnatal Constitutional CNV Detection using array based, or NGS approaches (Germline DNA).
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).
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).
Huntington disease (HD)
HTT gene testing for Huntington disease (HD) (Germline DNA)