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    Molecular Genetics
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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%). 

LVNC is a type cardiomyopathy defined hypertrophic left ventricle with deep intertrabecular recesses and poor systolic function (left ventricular dilation may or may not be present). This next-generation sequencing test is designed to detect mutations in the coding region of 12 genes associated with Non-Compaction Arrhythmogenic Left Ventricular Cardiomyopathy.

Reasons for Referral:

  • Echocardiogram results suspicious for cardiomyopathy.
  • Clinical presentation consistent with left ventricular non-compaction.
  • Positive family history for left ventricular non-compaction (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.

Non-Compaction Arrhythmogenic Left Ventricular Cardiomyopathy (12 genes): ACTC1, ACTN2, DTNA, LDB3, LMNA, MYBPC3, MYH7, MYL3, TAZ, TNNT2, TPM1, VCL


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