THE MINION AS A COST-EFFECTIVE TECHNOLOGY FOR DIAGNOSTIC SCREENING OF THE SCN1A GENE IN EPILEPSY PATIENTS

Abstract The MinION is a portable sequencer that allows real time sequencing and low capital cost investment. We assess accuracy and cost-effectivess of the MinION for genetic diagnostic testing of known SCN1A mutations in Dravet Syndrome (DS). DNA samples (n = 7) from DS patients previously shown to carry SCN1A mutations via Ion Torrent and Sanger sequencing 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 reliable detect INDELS in this gene.