THIS PANEL HAS BEEN MADE INTERNAL https://panelapp.genomicsengland.co.uk/panels/519/ Cytopenia - NOT Fanconi anaemia is to be used for both indications (R91 'Cytopenia - Fanconi breakage testing indicated' and R258 'Cytopenia - NOT Fanconi anaemia'
Carl Fratter asked whether it was appropriate to include all R91 genes in the R258 panel, as the testing criteria seem to exclude isolated thrombocytopenia and isolated neutropenia from R258. Anna de Burca discussed this with Richard Scott and the intention is for the same panel to be used for both indications. For R91, panel https://panelapp.genomicsengland.co.uk/panels/519/ would be done as a first-line test, whereas for patients tested under R258, Fanconi breakage testing would be carried out first, followed by panel https://panelapp.genomicsengland.co.uk/panels/519/
This panel is used for clinical indication 'R258 Cytopenia - Fanconi breakage testing indicated' 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 'R258 Cytopenia - Fanconi breakage testing indicated'.
The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.
If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.