Pharmacogenetics (panel testing)
Applicable to all labs undertaking panel based molecular testing of pharmacogenetic markers for drug response and efficacy.
DNA SEQUENCING – NGS (Somatic SNVs and Indels – no matched germline sample)
Applicable to any labs using NGS (not requiring a matched normal control sample) as part of their somatic testing process. This is a pilot EQA.
Hereditary Haemochromatosis (HFE)
Applicable to all labs undertaking molecular genetic testing for this disorder.
Hereditary Hearing Loss
Applicable to all labs undertaking molecular genetic testing for this disorder.
Familial autosomal dominant hypercholesterolemia (FH)
Applicable to all labs undertaking molecular genetic testing for this disorder.
Autosomal Dominant Polycystic Kidney Disease (ADPKD) and optional gene panel testing for hereditary cystic kidney disease
Applicable to all labs undertaking molecular genetic testing for this disorder.
