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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