Molecular Genetics Hypertrophic Cardiomyopathy Panel

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%).  This next-generation sequencing test is designed to detect mutations in the coding region of 33 genes associated with hypertrophic cardiomyopathy. 

Reasons for Referral:

• Echocardiogram results suspicious for cardiomyopathy.
• Clinical presentation consistent with cardiomyopathy.
• Positive family history for 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.

Hypertrophic Cardiomyopathy:
ACTC1, ACTN2, ANKRD1, CAV3, COX15, CSRP3, FXN, GAA, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, PTPN11, RAF1, SCO2, SURF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL