• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    ARVC • Ventricular Arrhythmia • DSC2 • DSG2 • DSP • JUP • LMNA • MYBPC3 • MYH7 • PKP2 • RYR2 • TGFB3 • TMEM43 • TTN
  • CPT Code(s):
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Background:

The inherited cardiomyopathies comprise a group of genetically heterogeneous diseases, the most common of which are hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and left ventricular non-compaction (LVNC).  These disorders have an impact across all age groups.  Overall, the prevalence of these disorders is estimated at approximately 1/500 (0.2%). 

ARVC is a type of cardiomyopathy defined by the progressive replacement of the myocardium with fibrous/fatty tissue, which increases the risk of ventricular arrhythmia and sudden death. The prevalence of ARVC is estimated to be between 1/1,000 and 1/1,250. This next-generation sequencing test is designed to detect mutations in the coding region of 12 genes associated with Arrhythmogenic Right Ventricular Cardiomyopathy.

Reasons for Referral:

  • Echocardiogram results suspicious for cardiomyopathy.
  • Clinical presentation consistent with Arrhythmogenic Right Ventricular Cardiomyopathy.
  • Positive family history for Arrhythmogenic Right Ventricular Cardiomyopathy (targeted testing is available if familial mutation is known).
  • Carrier testing.
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.

The 12 Arrhythmogenic Right Ventricular Cardiomyopathy-associated genes are listed below:
DSC2, DSG2, DSP, JUP, LMNA, MYBPC3, MYH7, PKP2, RYR2, TGFB3, TMEM43, TTN

Methodology:

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Test Performed (Days):

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References:

  1. GeneReviews: McNally et al., 2014, http://www.ncbi.nlm.nih.gov/books/NBK1131/
  2. Genetics Home Reference: http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy

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