Hyperinsulinism


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 Inclusion criteria

  • Hypoglycaemia onset before 12 years of age
  • Drug-treated for >=3 months or pancreatectomy
  • Intravenous glucose infusion rate required to maintain normoglycaemia >8mg/kg/min
  • Detectable serum insulin or C-Peptide when blood glucose is less than 3mmol/L

 Exclusion criteria

  • Hypoglycaemia in the neonatal period which resolved without treatment
  • Hypoglycaemia in the context of systemic neonatal disease e.g. sepsis

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.

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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