DNA SEQUENCING – NGS (Germline) CNV testing
Applicable to any labs using NGS as part of their germline CNV testing process. Pilot EQA Scheme.
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.
Inherited Retinal Disorders (IRD)
Applicable to all labs undertaking molecular genetic testing for syndromic and non-syndromic IRD.
Lynch syndrome (hereditary non-polyposis colon cancer, HNPCC)
Applicable to all labs undertaking molecular genetic testing for this hereditary cancer type.
Hereditary Breast / Ovarian cancer (HBOC) (germline)
Applicable to labs that undertake germline testing for this group of disorders
