Expert review recommendation is that the mitochondrial disorders gene panel should be applied to patients recruited under Lactic acidosis. The gene panel can be found here: https://bioinfo.extge.co.uk/crowdsourcing/PanelApp/EditPanel/55928cf522c1fc4f7d26e960
Evidence of inborn error of metabolism as demonstrated by findings in at least 2 of the following areas:
Biochemical testing and genetic testing completed for relevant known inborn errors of metabolism
Prior Genetic Testing:
Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype.
Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND
Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype AND
The following specific gene tests are advised as a means of limiting the re-discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests:
Genetic testing completed for relevant known inborn errors of metabolism
These requirements will be kept under continual review during the main programme and may be subject to change.