Cystic Fibrosis (CF)
CFTR testing for Cystic Fibrosis (germline DNA testing). To participate in EQA for Cystic Fibrosis, please go to our partner organisation’s (CF Network) website (https://eqascheme.org)
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).
Myotonic dystrophy (DM) (Types 1 and/or 2)
DMPK and CNBP gene testing for Myotonic Dystrophy (DM) (Types 1 and/or 2) (Germline DNA). This EQA has options for targeted or panel testing.
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.