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Implications of genetic testing in noncompaction/hypertrabeculation
Author(s) -
Shieh Joseph T.C.
Publication year - 2013
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31371
Subject(s) - penetrance , genetic testing , computational biology , genetics , left ventricular noncompaction , phenotype , disease , genetic diagnosis , genomics , genome , gene , biology , medicine , cardiomyopathy , heart failure
Abstract Noncompaction/hypertrabeculation is increasingly being recognized in children and adults, yet we understand little about the causes of disease. Genes associated with noncompaction/hypertrabeculation have been identified, but how can these assist in clinical management? Genomic technologies have also expanded tremendously, making testing more comprehensive, but they also present new questions given the tremendous diversity of phenotypes and variability of genomes. Here we present genetic evaluation strategies and assess clinical testing options for noncompaction/hypertrabeculation. We assess genes/gene panels offered by clinical laboratories and the potential for high‐throughput sequencing to fuel further discovery. We discuss challenges in cardiovascular genetics, such as interpretation of genomic variants, prediction and disease penetrance. © 2013 Wiley Periodicals, Inc.