This panel is used for clinical indication test type 'R42.1 Leber hereditary optic neuropathy' in the NHS Genomic Medicine Service. This panel should be used first to test for Leber hereditary optic neuropathy. If no causative variants are found then consider requesting the ‘R42.2 Optic neuropathy’ panel (https://panelapp.genomicsengland.co.uk/panels/186/).
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 'R42 Leber hereditary optic neuropathy'.
The content of this panel (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/530/?version=1.2) was signed off under NHS Genomic Medicine Service governance on (18/02/2020).
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.
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.
Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.