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 Hearing Loss
Testing for Hereditary Hearing Loss. This EQA has options for panel testing and targeted DFNB1 (GJB2 and GJB6) testing
Hereditary Renal / Kidney Cancer (VHL)
Testing for Hereditary Renal / Kidney Cancer. This EQA has options for targeted VHL testing or gene panel testing of hereditary renal cancer disorders (Germline DNA)
Inherited Retinal Disorders (IRD)
Panel testing for isolated and syndromic Inherited Retinal Disorders (IRD) (Germline DNA). Includes one case involving a gene related to an approved/in trial therapy, and option for RPGR ORF15 testing.
Familial Autosomal Dominant Hypercholesterolemia (FH)
LDLR, APOB and PCSK9 testing for patients with familial autosomal dominant hypercholesterolemia and familial cases.
Congenital Adrenal Hyperplasia (CAH)
CYP21A2 testing for Congenital Adrenal Hyperplasia (CAH) (germline DNA testing)