Genetic testing

David J. Tester, Michael John Ackerman

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Within the field of molecular cardiac electrophysiology, the previous two decades of research have elucidated the fundamental genetic substrates underlying many arrhythmogenic disorders associated with sudden cardiac death including long QT syndrome (LQTS), Andersen-Tawil syndrome, Timothy syndrome, short QT syndrome (SQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada Syndrome (BrS), familial AV block, early repolarization syndrome, and atrial fibrillation. In addition, the molecular underpinnings for structural cardiomyopathies vulnerable to sudden arrhythmic death: dilated cardiomyopathy, hypertrophic cardiomyopathy, left ventricular noncompaction syndrome, and arrhythmogenic right ventricular cardiomyopathy, are understood now in greater detail. Gene testing for several of these heritable channelopathies and cardiomyopathies are currently available through specialized clinical and/or research based laboratories. The purpose of this chapter is to equip the reader with a basic understanding of molecular genetics and genetic testing in the setting of cardiac electrophysiologic disorders. First, the chapter will present a primer on fundamental molecular genetics including the organization of the human genome, transfer of genetic information, different modes of inheritance, and types of mutations in human genetic disease. Next, techniques utilized in genetic testing will be illustrated. And finally, this chapter will address the important issues of genetic testing, including clinical versus research based testing, benefits of genetic testing, limitations to genetic testing, interpretation of the genetic test, role of genetic counselors, and ethical, legal and societal implications.

Original languageEnglish (US)
Title of host publicationElectrical Diseases of the Heart: Volume 2: Diagnosis and Treatment, Second Edition
PublisherSpringer-Verlag London Ltd
Pages315-332
Number of pages18
ISBN (Print)9781447149781, 9781447149774
DOIs
StatePublished - Jan 1 2013

Fingerprint

Genetic Testing
Cardiomyopathies
Andersen Syndrome
Molecular Biology
Research
Cardiac Electrophysiology
Channelopathies
Arrhythmogenic Right Ventricular Dysplasia
Brugada Syndrome
Long QT Syndrome
Inborn Genetic Diseases
Atrioventricular Block
Hypertrophic Cardiomyopathy
Sudden Cardiac Death
Medical Genetics
Dilated Cardiomyopathy
Human Genome
Sudden Death
Atrial Fibrillation
Mutation

Keywords

  • Cardiomyopathies
  • Channelopathies
  • Genes
  • Genetic testing
  • Mutation

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Tester, D. J., & Ackerman, M. J. (2013). Genetic testing. In Electrical Diseases of the Heart: Volume 2: Diagnosis and Treatment, Second Edition (pp. 315-332). Springer-Verlag London Ltd. https://doi.org/10.1007/978-1-4471-4978-1_20

Genetic testing. / Tester, David J.; Ackerman, Michael John.

Electrical Diseases of the Heart: Volume 2: Diagnosis and Treatment, Second Edition. Springer-Verlag London Ltd, 2013. p. 315-332.

Research output: Chapter in Book/Report/Conference proceedingChapter

Tester, DJ & Ackerman, MJ 2013, Genetic testing. in Electrical Diseases of the Heart: Volume 2: Diagnosis and Treatment, Second Edition. Springer-Verlag London Ltd, pp. 315-332. https://doi.org/10.1007/978-1-4471-4978-1_20
Tester DJ, Ackerman MJ. Genetic testing. In Electrical Diseases of the Heart: Volume 2: Diagnosis and Treatment, Second Edition. Springer-Verlag London Ltd. 2013. p. 315-332 https://doi.org/10.1007/978-1-4471-4978-1_20
Tester, David J. ; Ackerman, Michael John. / Genetic testing. Electrical Diseases of the Heart: Volume 2: Diagnosis and Treatment, Second Edition. Springer-Verlag London Ltd, 2013. pp. 315-332
@inbook{abeb4b146c544942bc330493b0e431a4,
title = "Genetic testing",
abstract = "Within the field of molecular cardiac electrophysiology, the previous two decades of research have elucidated the fundamental genetic substrates underlying many arrhythmogenic disorders associated with sudden cardiac death including long QT syndrome (LQTS), Andersen-Tawil syndrome, Timothy syndrome, short QT syndrome (SQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada Syndrome (BrS), familial AV block, early repolarization syndrome, and atrial fibrillation. In addition, the molecular underpinnings for structural cardiomyopathies vulnerable to sudden arrhythmic death: dilated cardiomyopathy, hypertrophic cardiomyopathy, left ventricular noncompaction syndrome, and arrhythmogenic right ventricular cardiomyopathy, are understood now in greater detail. Gene testing for several of these heritable channelopathies and cardiomyopathies are currently available through specialized clinical and/or research based laboratories. The purpose of this chapter is to equip the reader with a basic understanding of molecular genetics and genetic testing in the setting of cardiac electrophysiologic disorders. First, the chapter will present a primer on fundamental molecular genetics including the organization of the human genome, transfer of genetic information, different modes of inheritance, and types of mutations in human genetic disease. Next, techniques utilized in genetic testing will be illustrated. And finally, this chapter will address the important issues of genetic testing, including clinical versus research based testing, benefits of genetic testing, limitations to genetic testing, interpretation of the genetic test, role of genetic counselors, and ethical, legal and societal implications.",
keywords = "Cardiomyopathies, Channelopathies, Genes, Genetic testing, Mutation",
author = "Tester, {David J.} and Ackerman, {Michael John}",
year = "2013",
month = "1",
day = "1",
doi = "10.1007/978-1-4471-4978-1_20",
language = "English (US)",
isbn = "9781447149781",
pages = "315--332",
booktitle = "Electrical Diseases of the Heart: Volume 2: Diagnosis and Treatment, Second Edition",
publisher = "Springer-Verlag London Ltd",

}

TY - CHAP

T1 - Genetic testing

AU - Tester, David J.

AU - Ackerman, Michael John

PY - 2013/1/1

Y1 - 2013/1/1

N2 - Within the field of molecular cardiac electrophysiology, the previous two decades of research have elucidated the fundamental genetic substrates underlying many arrhythmogenic disorders associated with sudden cardiac death including long QT syndrome (LQTS), Andersen-Tawil syndrome, Timothy syndrome, short QT syndrome (SQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada Syndrome (BrS), familial AV block, early repolarization syndrome, and atrial fibrillation. In addition, the molecular underpinnings for structural cardiomyopathies vulnerable to sudden arrhythmic death: dilated cardiomyopathy, hypertrophic cardiomyopathy, left ventricular noncompaction syndrome, and arrhythmogenic right ventricular cardiomyopathy, are understood now in greater detail. Gene testing for several of these heritable channelopathies and cardiomyopathies are currently available through specialized clinical and/or research based laboratories. The purpose of this chapter is to equip the reader with a basic understanding of molecular genetics and genetic testing in the setting of cardiac electrophysiologic disorders. First, the chapter will present a primer on fundamental molecular genetics including the organization of the human genome, transfer of genetic information, different modes of inheritance, and types of mutations in human genetic disease. Next, techniques utilized in genetic testing will be illustrated. And finally, this chapter will address the important issues of genetic testing, including clinical versus research based testing, benefits of genetic testing, limitations to genetic testing, interpretation of the genetic test, role of genetic counselors, and ethical, legal and societal implications.

AB - Within the field of molecular cardiac electrophysiology, the previous two decades of research have elucidated the fundamental genetic substrates underlying many arrhythmogenic disorders associated with sudden cardiac death including long QT syndrome (LQTS), Andersen-Tawil syndrome, Timothy syndrome, short QT syndrome (SQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada Syndrome (BrS), familial AV block, early repolarization syndrome, and atrial fibrillation. In addition, the molecular underpinnings for structural cardiomyopathies vulnerable to sudden arrhythmic death: dilated cardiomyopathy, hypertrophic cardiomyopathy, left ventricular noncompaction syndrome, and arrhythmogenic right ventricular cardiomyopathy, are understood now in greater detail. Gene testing for several of these heritable channelopathies and cardiomyopathies are currently available through specialized clinical and/or research based laboratories. The purpose of this chapter is to equip the reader with a basic understanding of molecular genetics and genetic testing in the setting of cardiac electrophysiologic disorders. First, the chapter will present a primer on fundamental molecular genetics including the organization of the human genome, transfer of genetic information, different modes of inheritance, and types of mutations in human genetic disease. Next, techniques utilized in genetic testing will be illustrated. And finally, this chapter will address the important issues of genetic testing, including clinical versus research based testing, benefits of genetic testing, limitations to genetic testing, interpretation of the genetic test, role of genetic counselors, and ethical, legal and societal implications.

KW - Cardiomyopathies

KW - Channelopathies

KW - Genes

KW - Genetic testing

KW - Mutation

UR - http://www.scopus.com/inward/record.url?scp=84949455903&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84949455903&partnerID=8YFLogxK

U2 - 10.1007/978-1-4471-4978-1_20

DO - 10.1007/978-1-4471-4978-1_20

M3 - Chapter

AN - SCOPUS:84949455903

SN - 9781447149781

SN - 9781447149774

SP - 315

EP - 332

BT - Electrical Diseases of the Heart: Volume 2: Diagnosis and Treatment, Second Edition

PB - Springer-Verlag London Ltd

ER -