The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients

Epilepsy Res. 2021 May:172:106593. doi: 10.1016/j.eplepsyres.2021.106593. Epub 2021 Feb 27.

Abstract

The MinION is a portable DNA sequencer that allows real time sequencing at low capital cost investment. We assessed accuracy and cost-effectivess of the MinION for genetic diagnostic testing of known SCN1A mutations that cause Dravet Syndrome (DS). DNA samples (n = 7) from DS patients previously shown to carry SCN1A mutations via Ion Torrent and Sanger sequencing were sequenced using the MinION. SCN1A amplicons for 8 exons were sequenced using the MinION with 1D chemistry on an R9.4 flow cell. All known missense mutations were detected in all samples showing 100 % concordance with results from other methods. However, the MinION failed to detect the insertions/deletions (INDELs) present in these patients. Nevertheless, these results indicate that MinION is a cost-effective platform for use as an initial screening step in the detection of nucleotide substitution mutations in in SCN1A, especially in under-resourced laboratories or hospitals. Further improvements are required to reliably detect INDELS in this gene.

Keywords: Diagnostics; Dravet; Genetics; Mutation; SCN1A.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cost-Benefit Analysis
  • Epilepsies, Myoclonic* / diagnosis
  • Epilepsies, Myoclonic* / genetics
  • Epilepsy* / diagnosis
  • Epilepsy* / genetics
  • Epileptic Syndromes
  • Humans
  • Mutation / genetics
  • NAV1.1 Voltage-Gated Sodium Channel / analysis*
  • NAV1.1 Voltage-Gated Sodium Channel / genetics
  • Spasms, Infantile
  • Technology

Substances

  • NAV1.1 Voltage-Gated Sodium Channel
  • SCN1A protein, human

Supplementary concepts

  • CDKL5 deficiency disorder