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Med. Sci. 2017, 5(4), 22; doi:10.3390/medsci5040022

Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory

1
Diagnostic Genetics, LabPLUS, Auckland City Hospital, PO Box 110031, Auckland 1148, New Zealand
2
Bioinformatics Institute, The University of Auckland, Private Bag 92019, Auckland 1142, New Zealand
3
Agilent Technologies, Mulgrave, VIC 3170, Australia
4
Greenlane Paediatric and Congenital Cardiac Service, Starship Children’s Hospital, Grafton, Private Bag 92024, Auckland 1142, New Zealand
5
Cardiac Inherited Disease Group, Auckland City Hospital, Auckland 1148, New Zealand
6
Department of Paediatrics, Child and Youth Health, The University of Auckland, Private Bag 92019, Auckland 1142, New Zealand
*
Author to whom correspondence should be addressed.
Received: 28 June 2017 / Revised: 20 September 2017 / Accepted: 2 October 2017 / Published: 10 October 2017
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Abstract

Sudden cardiac death (SCD) in people before the age of 35 years is a devastating event for any family. The causes of SCD in the young can be broadly divided into two groups: heritable cardiac disorders that affect the heart structure (cardiomyopathies) and primary electrical disorders (cardiac ion channelopathies). Genetic testing is vital as those suffering from cardiac ion channelopathies have structurally normal hearts, and those with cardiomyopathies may only show subtle abnormalities in the heart and these signs may not be detected during an autopsy. Post-mortem genetic testing of SCD victims is important to identify the underlying genetic cause. This is important as family cascade screening may be undertaken to identify those who may be at risk and provide vital information about risk stratification and clinical management. The development of massively parallel sequencing (MPS) has made it possible for the simultaneous screening of multiple patients for hundreds of genes. In light of this, we opted to develop an MPS approach for SCD analysis that would allow us to screen for mutations in genes implicated in cardiomyopathies and cardiac ion channelopathies. The rationale behind this panel was to limit it to genes carrying the greatest mutation load. If no likely pathogenic gene variant were found then testing could cascade to whole exome/genome sequencing as a gene-discovery exercise. The overarching aim was to design and validate a custom-cardiac panel that satisfies the diagnostic requirements of LabPLUS (Auckland City Hospital, Auckland, NZ) and the guidelines provided by the Royal College of Pathologists of Australasia and the Association for Clinical Genetic Science. View Full-Text
Keywords: sudden cardiac death; massively parallel sequencing; next generation sequencing, cardiac gene panel sudden cardiac death; massively parallel sequencing; next generation sequencing, cardiac gene panel
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MDPI and ACS Style

Leong, I.U.S.; Stuckey, A.; Belluoccio, D.; Fan, V.; Skinner, J.R.; Prosser, D.O.; Love, D.R. Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory. Med. Sci. 2017, 5, 22.

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