This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R406 Thrombocythaemia' but can also be used as part of the analysis for a broader clinical presentation, where relevant.
Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R406 Thrombocythaemia'.
The content of this panel (version 1.1: https://panelapp.genomicsengland.co.uk/api/v1/panels/945/?version=1.1) was signed off under NHS Genomic Medicine Service governance on (30/09/2020).
This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated version number.
CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.