NGS for germline CNVs pilot
EQA for quality of NGS for CNVs >50bp (Germline DNA). For whole exome or genome sequencing. Pilot EQA Scheme.
NGS for germline SNVs and indels
EQA for quality of NGS for SNVs and indels <50bp (Germline DNA). For any NGS strategy (single gene, panel testing, whole exome sequencing or whole genome sequencing).
NGS for somatic SNVs and indels – tumour with germline subtraction analysis
EQA for quality of NGS for somatic SNVs and indels <50bp (FFPE). For NGS requiring a matched normal control germline sample (single gene, panel testing, whole exome sequencing or whole genome sequencing). Pilot EQA.
NGS for somatic SNVs and indels – tumour testing only
EQA for quality of NGS for somatic SNVs and indels <50bp (FFPE). For NGS NOT requiring a matched normal control germline sample (single gene, panel testing, whole exome sequencing or whole genome sequencing). Pilot EQA.
Postnatal Constitutional CNV Detection
Postnatal Constitutional CNV Detection using array based, or NGS approaches (Germline DNA).
Rare Neurological Disease (RND) Gene Panel
NGS gene panel testing for Rare Neurological Diseases (Germline DNA) (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)