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.
Cardiac Disorders
Panel testing for Cardiac disorders (targeted NGS/ virtual panel /clinical exome / WES / WGS). This EQA has options for Arrythmia panel, Hypertrophic Cardiomyopathy panel, and all Cardiac Disorders.
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.