- Title
- The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients
- Creator
- Ngo, Thi Tuyet Dieu; Lea, Rodney A.; Scott, Rodney; Griffiths, Lyn R.; Maksemous, Neen; Eccles, David A.; Smith, Robert A.; Dunn, Paul J.; Thao, Van Cao; Ha, Thi Minh Thi; Bùi, Chi Bao; Haupt, Larisa M.
- Relation
- Epilepsy Research Vol. 172, Issue May 2021, no. 106593
- Publisher Link
- http://dx.doi.org/10.1016/j.eplepsyres.2021.106593
- Publisher
- Elsevier
- Resource Type
- journal article
- Date
- 2021
- Description
- 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.
- Subject
- dravet; genetics; diagnostics; mutation; SCN1A
- Identifier
- http://hdl.handle.net/1959.13/1448681
- Identifier
- uon:43460
- Identifier
- ISSN:0920-1211
- Language
- eng
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