- Neonatal diabetes diagnosed < 6 months
NOTE: diabetes diagnosed before 6 months of age almost universally has a monogenic aetiology. Families should be recruited if diabetes is diagnosed according to WHO criteria before the age of 6 months, and the diagnostic panel of known genes is negative.
- One or more pancreatic autoantibodies (GAD, IA2, ICA) positive (titre >99th population centile)
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 as below is strongly recommended PRIOR TO RECRUITMENT as WGS will not detect treatable mutations quickly enough to prevent irreversible neurological damage in a subset of patients:
- Neonatal diabetes screen which is offered at the Exeter Molecular Genetics Laboratory or an equivalent genetic test
These requirements will be kept under continual review during the main programme and may be subject to change.« Back to Disease List