Arrhythmogenic right ventricular cardiomyopathy

Diagnosis and Testing

What's involved in genetic testing for arrhythmogenic right ventricular cardiomyopathy?

Genetic testing should be offered to anybody who has arrhythmogenic right ventricular cardiomyopathy and to anybody who has it in their family.

An arrhythmogenic right ventricular cardiomyopathy (ARVC) multigene panel that includes the genes listed below is most likely to identify the genetic cause of ARVC while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the symptoms.

Genes that may be included on the genetic testing panel:

  • DSC2
  • DSG2
  • DSP
  • JUP
  • PKP2
  • TMEM43
  • TGFB3
  • RYR2

Deletion/duplication analysis and sequencing are done on these genes. Deletion/duplication analysis checks the gene for any extra or missing information. Sequencing checks the gene to see if any of the present information was changed to other information that doesn't quite fit there.

Most genetic testing is done with a small blood draw, but a cheek swab may be possible; it all depends on what kind of testing the doctor thinks he/she should order.

If you are concerned that you may have ARVC, you can discuss any concerns with your primary care doctor and talk about getting a referral to see a cardiologist and/or genetic counselor.

To learn more about ARVC, contact a genetic counselor for more information. Use the Find a Genetic Counselor page at the National Society of Genetic Counselors' website to locate a genetic counselor near you (for the United States only). Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/arrhythmogenic-right-ventricular-cardiomyopathy-109924/diagnosis-testing/66389 • DATE UPDATED: 2019-06-18

References

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