Charcot-Marie-Tooth disease / Hereditary Neuropathy with liability for Pressure Palsies (CMT/HNPP)
PMP22 deletion/duplication testing for CMT/HNPP, this EQA has options for PMP22 targeted testing and panel testing for CMT/HNPP associated genes (Germline DNA).
Polyposis Syndromes (FAP, MAP)
APC and MUTYH testing for patients with disorders associated with polyposis (Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP)) and familial cases.
Familial Autosomal Dominant Hypercholesterolemia (FH)
LDLR, APOB and PCSK9 testing for patients with familial autosomal dominant hypercholesterolemia and familial cases.