Genetic Testing Requires NGS and Sanger Methodologies

Lawrence J. Jennings; Dawn Kirschmann

doi:10.15844/pedneurbriefs-30-9-1

Genetic Testing Requires NGS and Sanger Methodologies

Pediatric Neurology Briefs

Volume 30 (2016): Issue 9

By: Lawrence J. Jennings and Dawn Kirschmann

Open Access

|Sep 2016

Abstract

Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.

References

Djémié T Weckhuysen S von Spiczak S Carvill GL Jaehn J Anttonen AK EuroEPINOMICS-RES Dravet working group Pitfalls in genetic testing: the story of missed SCN1A mutations Mol Genet Genomic Med 2016 Apr 4 4 457 64 10.1002/mgg3.217 27465585
Open DOI Search in Google Scholar Back to article
Jennings LJ Yu M Zhou L Rand CM Berry-Kravis EM Weese-Mayer DE Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers Diagn Mol Pathol 2010 Dec 19 4 224 31 10.1097/PDM.0b013e3181eb92ff 21051998
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Schrijver I Aziz N Farkas DH Furtado M Gonzalez AF Greiner TC Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology J Mol Diagn 2012 Nov 14 6 525 40 10.1016/j.jmoldx.2012.04.006 22918138
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-30-9-1 | Journal eISSN: 2166-6482

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Language: English

Page range: 36 - 36

Submitted on: Sep 2, 2016

Accepted on: Sep 10, 2016

Published on: Sep 13, 2016

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

NGS,

Sanger,

SCN1A

© 2016 Lawrence J. Jennings, Dawn Kirschmann, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 30 (2016): Issue 9