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Table 1 Diagnostic assay types

From: PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories

Assay Origin Type Description (genes) Size of panel (bases) Sample volumes (up to June 2016)
Germline Custom in-house Amplicon Predictive and diagnostic panel for routine germline assays (4) 28.6 Kb 7822
Somatic Custom in-house Amplicon Multiple tumour stream panel for routine somatic assays (16a) 18.4 Kb 4325
Myeloid Custom in-house Amplicon Myeloid panel for routine haem. assays (26a) 29.9 Kb 1311
Lymphoid Custom in-house Amplicon Lymphoid panel for routine haem. assays (21a) 20.0 Kb 495
Clinical trials Illumina Dual strand amplicon Panels for volume clinical trial (41) 26.4 Kb 1323
Clinical cancer panel Custom in-house Hybrid capture General purpose somatic cancer gene panel for routine clinical use (391a) 2.34 Mb 343
  1. aTargeted at gene hotspot regions
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Genome Medicine

ISSN: 1756-994X

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