DNA SEQUENCING – NGS (Germline SNVs and indels)
Applicable to any labs using NGS as part of their germline testing process.
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 + matched germline sample)
Applicable to any lab using requiring a matched normal control germline sample as part of their somatic NGS testing process. Pilot EQA.
Hereditary Breast / Ovarian cancer (HBOC) (germline)
Applicable to labs that undertake germline testing for this group of disorders
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.
