Mitochondrial DNA disorders
Applicable to all labs undertaking molecular genetic testing for this group of mitochondrial disorders
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 – 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.
NIPT for common aneuploidies (including sex chromosomes)
Applicable for all labs undertaking NIPT for common aneuploidies (including sex chromosomes).
