This panel is used for clinical indication 'R124 Combined factor V and VIII deficiency' in the NHS Genomic Medicine Service.
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 'R124 Combined factor V and VIII deficiency'.
The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.
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.
The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/517/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (23/09/2019).
This panel will continue to be curated. 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 for the GMS panels.