Application of Massively Parallel Sequencing in the Clinical Diagnostic Testing of Inherited Cardiac Conditions

Medical Sciences

Ivone U. S. Leong²  Jonathan R. Skinner¹ 

[1] Green Lane Paediatric and Congenital Cardiac Services, Starship Children’s Hospital, Private Bag 92024, Auckland 1142, New Zealand; E-Mail:;Diagnostic Genetics, LabPlus, Auckland City Hospital, PO Box 110031, Auckland 1142, New Zealand; E-Mail:

关键词: sudden cardiac death;    massively parallel sequencing;    genetic screening;    diagnostic;   

DOI  :  10.3390/medsci2020098

来源: mdpi

【 摘 要 】

Sudden cardiac death in people between the ages of 1–40 years is a devastating event and is frequently caused by several heritable cardiac disorders. These disorders include cardiac ion channelopathies, such as long QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome and cardiomyopathies, such as hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. Through careful molecular genetic evaluation of DNA from sudden death victims, the causative gene mutation can be uncovered, and the rest of the family can be screened and preventative measures implemented in at-risk individuals. The current screening approach in most diagnostic laboratories uses Sanger-based sequencing; however, this method is time consuming and labour intensive. The development of massively parallel sequencing has made it possible to produce millions of sequence reads simultaneously and is potentially an ideal approach to screen for mutations in genes that are associated with sudden cardiac death. This approach offers mutation screening at reduced cost and turnaround time. Here, we will review the current commercially available enrichment kits, massively parallel sequencing (MPS) platforms, downstream data analysis and its application to sudden cardiac death in a diagnostic environment.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.