DNA SEQUENCING – NGS (Germline) CNV testing
Applicable to any labs using NGS as part of their germline CNV testing process. Pilot EQA Scheme.
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.
Familial autosomal dominant hypercholesterolemia (FH)
Applicable to all labs undertaking molecular genetic testing for this disorder.
Hereditary Amyloidosis
Applicable to labs that undertake molecular genetic testing for this group of disorders
Breast cancer (AKT pathway gene testing (PIK3CA, AKT1, PTEN) [Tissue]
Applicable to labs undertaking molecular testing of the PIK3CA, AKT1 and PTEN genes in this type of cancer.
