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

Thi Tuyet Dieu Ngo, Rodney A. Lea*, Neven Maksemous, David A. Eccles, Robert A. Smith, Paul J. Dunn, Van Cao Thao, Thi Minh Thi Ha, Chi Bao Bùi, Larisa M. Haupt, Rodney Scott, Lyn R. Griffiths

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

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.

Original languageEnglish
Article number106593
JournalEpilepsy Research
Volume172
DOIs
Publication statusPublished - May 2021
Externally publishedYes

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