Lessons learned from testing cardiac channelopathy and cardiomyopathy genes in individuals who died suddenly: A two‐year prospective study in a large medical examiner’s office with an in‐house molecular genetics laboratory and genetic counseling services

This is a comprehensive review and analysis of 254 cases tested consecutively in the in‐house College of American Pathologist‐accredited molecular genetics laboratory within the New York City Office of Chief Medical Examiner between October 2015 and February 2018, using a multigene cardiac panel com...

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Bibliographic Details
Published in:Journal of genetic counseling 2020-04, Vol.29 (2), p.293-302
Main Authors: Williams, Nori, Manderski, Elizabeth, Stewart, Sarah, Bao, Ruijun, Tang, Yingying
Format: Article
Language:English
Subjects:
Adolescent
Adult
Arrhythmia
Arteriosclerosis
Atherosclerosis
Autopsy
Cardiac arrhythmia
cardiac genes
Cardiomyopathies - genetics
Cardiomyopathy
Cardiovascular diseases
Channelopathies - genetics
Channelopathy
Child
Child, Preschool
Coroners and Medical Examiners
Counseling services
Death, Sudden, Cardiac
Demography
Examiners
Female
Genes
Genetic Counseling
Genetic Predisposition to Disease
Genetic screening
Genetic Testing
Heart
Humans
Hypertension
Hypertrophy
Infant
Infants
Laboratories
Male
Medical examiners
Medical history
Molecular genetics
Pacific Islander people
panel testing
postmortem
Prospective Studies
public health
Referrals
Ryanodine receptors
Substance abuse
Substance use
Sudden death
underrepresented populations
Variants
Young Adult
Young adults
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Summary:This is a comprehensive review and analysis of 254 cases tested consecutively in the in‐house College of American Pathologist‐accredited molecular genetics laboratory within the New York City Office of Chief Medical Examiner between October 2015 and February 2018, using a multigene cardiac panel composed of 95 genes associated with cardiac channelopathy and cardiomyopathy. Demographics, autopsy findings, medical history, and postmortem genetic testing results were collected for each case. The majority of decedents were adults (>25 years old, 52.7%), followed by infants (
ISSN:1059-7700
1573-3599
DOI:10.1002/jgc4.1157