Purpose of Review <p>To provide the reader with an updated understanding of current knowledge on the types and utility of genetic testing offered to people with congenital heart disease.</p> Recent Findings <p>Multiple types of genetic testing are utilized in clinical practice to delineate the genetic etiology of congenital heart disease. Cohorts have been assembled including individuals with both non-isolated and apparently isolated congenital heart disease to evaluate the expected diagnostic yield of various testing modalities, as well as the incremental yield of exome and genome sequencing modalities.</p> Summary <p>Further evidence supporting the utility of genetic testing in both non-isolated and apparently isolated forms of congenital heart disease has been recently published. There is increasing evidence for testing people with apparently isolated cardiac malformations. Future directions include understanding the remaining missing heritability of congenital heart disease including quantifying the significance of non-coding variants and oligogenic risk for congenital heart disease.</p>

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The Role of Genetic Testing in Congenital Heart Disease

  • Courtney P. Verscaj,
  • Sarah U. Morton

摘要

Purpose of Review

To provide the reader with an updated understanding of current knowledge on the types and utility of genetic testing offered to people with congenital heart disease.

Recent Findings

Multiple types of genetic testing are utilized in clinical practice to delineate the genetic etiology of congenital heart disease. Cohorts have been assembled including individuals with both non-isolated and apparently isolated congenital heart disease to evaluate the expected diagnostic yield of various testing modalities, as well as the incremental yield of exome and genome sequencing modalities.

Summary

Further evidence supporting the utility of genetic testing in both non-isolated and apparently isolated forms of congenital heart disease has been recently published. There is increasing evidence for testing people with apparently isolated cardiac malformations. Future directions include understanding the remaining missing heritability of congenital heart disease including quantifying the significance of non-coding variants and oligogenic risk for congenital heart disease.