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.
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.
Multiple Endocrine Neoplasia Type 2 (MEN2)
Applicable for all labs undertaking molecular genetics testing for this disorder.
Hereditary Breast / Ovarian cancer (HBOC) (germline)
Applicable to labs that undertake germline testing for this group of disorders
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.
