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Cost of exome sequencing in epileptic encephalopathy: is it ‘worth it’?
  1. Eva B Forman1,
  2. Kathleen M Gorman1,
  3. Judith Conroy2,
  4. Neil Arthur3,
  5. Ciara Grant1,
  6. Sean Ennis2,
  7. Nicholas M Allen4,
  8. Sally Ann Lynch2,5,
  9. Mary D King1,2
  1. 1Department of Neurology and Neurophysiology, Temple Street Children’s University Hospital, Dublin, Ireland
  2. 2School of Medicine and Medical Science, Academic Centre on Rare Diseases, University College Dublin, Dublin, Ireland
  3. 3Institute of Chartered Accountants in Ireland, Dublin, Ireland
  4. 4Department of Paediatric, National University of Ireland, Galway, Galway University Hospital, Galway, Ireland
  5. 5Department of Clinical Genetics, Temple Street Children’s University Hospital, Dublin, Ireland
  1. Correspondence to Dr Eva B Forman, Department of Neurology and Neurophysiology, Temple Street Children’s University Hospital, Dublin, 1, Ireland; forman.eva{at}

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Early onset epileptic encephalopathy (EOEE) presents in infancy and results in significant morbidity, disability and reduced life expectancy.1 The aetiology is heterogeneous and includes chromosomal abnormalities, single-gene disorders, structural brain malformations and inborn errors of metabolism. Despite extensive investigations, a large number remain unexplained. Next-generation sequencing including whole exome sequencing (WES) of affected infants has a reported diagnostic yield of 10%–71%.2 We performed a cost analysis on a cohort of 50 patients with EOEE who had WES performed in a research setting. Some patients (17/50) had single WES, whereas the remainder had trio WES. All patients had extensive genetic, metabolic and neuroimaging investigations performed prior to WES, with no cause identified. The diagnostic rate of WES in this cohort was 42% …

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