Table 1

Comparison of consumables costs to sequence long QT syndrome (LQT) genes using conventional sequencing or next generation sequencing (NGS)

ConventionalNGS short-read (high throughput)NGS long-read (low throughput)
Sequencing time∼1 day∼2 weeks∼2 days
Cost per sample£475£100£60
  • Costs shown are approximate costs for the five LQT genes for which NHS testing is currently available (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2). The NHS cost for mutation scanning is ∼£1000 per sample based on available data (http://www.ukgtn.nhs.uk). Conventional sequencing cost assumes 66 amplicons covering all protein-coding exons are sequenced in both directions at a cost of £3.60 per amplicon. NGS short-read cost assumes target enrichment of exons using the SureSelect in-solution hybridisation system and SOLiD sequencing of 100 samples in one run. Long-read NGS cost assumes combined library preparation and target enrichment using the Fluidigm Access Array system and 454 Junior sequencing of 48 samples in one run. These technologies have been piloted in our laboratory at these costs. It should be noted that the above costs are for consumables only; there will be additional overheads within a clinical diagnostic setting.