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Testing for Cardiovascular Disorders
There are various genetic testing methods available that can help detect cardiovascular disorders such as Danon disease, a rare and often fatal form of genetic cardiomyopathy.1,2 For patients with suspected cardiomyopathy, genetic testing can reduce the time to diagnosis, prevent misdiagnosis, and inform disease management.3
Types of genetic tests for cardiovascular disorders include:
Single-gene test1,4- Looks for mutations in a specific gene
- Used to confirm a diagnosis when multiple variants in the gene are suspected
Broad-panel test1,4- Allows for testing of many genes in a single procedure
- Used when a number of conditions are suspected or when the condition can be cause by mutations in more than one gene
Whole exome/genome testing1,4- Analyzes patients’ entire DNA sequence
- May be used when single-gene and broad-panel testing have not confirmed a diagnosis or genetic cause is still unclear
- More cost- and time-effective than multiple single-gene/broad-panel tests
References: 1. National Academies of Sciences, Engineering, and Medicine. An evidence framework for genetic testing. Washington DC: National Academies Press. 2017:1-149. 2. Brambatti M, Caspi O, Maolo A, et al. Danon disease: gender differences in presentation and outcomes. Int J Cardiol. 2019;286:92-98. 3. Scherr C, Kalke K, Ramesh S, et al. Integrating clinical genetics in cardiology: current practices and recommendations for education. Genet Med. 2022;24(5):1054-1061. 4. MedlinePlus. National Institutes of Health. Help me understand genetics. Accessed September 18, 2024. https://medlineplus.gov/genetics/understanding