Rare Neurological Disease gene panel
Applicable to labs that undertake NGS-based testing for this group of disorders (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)
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.
Hereditary Amyloidosis
Applicable to labs that undertake molecular genetic testing for this group of disorders
