- Sudden death at age less than or equal to 40 (including Sudden Infant Death Syndrome), AND
- No diagnosis established on post mortem examination, AND
- Absence of a pre-existing condition to explain the death.
- Parents should be recruited under this category in paediatric cases if available
- In adult cases the deceased individual should be recruited as a singleton; if surviving relatives have a phenotype which points to a particular condition, they should be the focus of further investigation or recruitment to the programme.
- Surviving relatives must be available to provide appropriate consent.
- Death in the context of a known diagnosed disease or accident
- Cause of death determined by post mortem examination
- No post mortem examination carried out
- No DNA or frozen tissue stored at post mortem.
Prior genetic testing guidance
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.
PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Prior genetic testing genes
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
- No genes listed
These requirements will be kept under continual review during the main programme and may be subject to change.« Back to Disease List