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

Authors
  • Ngo, Thi Tuyet Dieu
  • Lea, Rodney A.
  • Maksemous, Neven
  • Eccles, David A.
  • Smith, Robert A.
  • Dunn, Paul J.
  • Thao, Van Cao
  • Ha, Thi Minh Thi
  • Bùi, Chi Bao
  • Haupt, Larisa M.
  • Scott, Rodney
  • Griffiths, Lyn R.
Publication Date
May 01, 2021
Source
Queensland University of Technology ePrints Archive
Keywords
License
Unknown

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.

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