• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Dilated CardiomyopathyHypertrophic CardiomyopathyARVCLVNCCPVTRestrictive CardiomyopathyNoonanFamilial Aneurysm and AortopathyFabryLong / Short QTBrugada 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
  • 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%).  This next-generation sequencing test is designed to detect mutations in the coding region of 115 genes associated with 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.

Methodology:

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.

Comprehensive Cardiomyopathy gene list:

ABCC9, ACTA2, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNB2, CALM1, CASQ2, CAV3, CBL, CBS, COL3A1, COL5A1, COL5A2, COX15, CRYAB, CSRP3,  CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FBN1, FBN2, FKTN, FLNA, FXN, GAA, GATAD1, GLA, GPD1L, HCN4, HRAS, ILK, JUP, JPH2, KCNE1, KCNE2, KCNE3, KCNJ2, KCNH2, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MED12, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NOTCH1, NRAS, OBSCN, PDLIM3, PKP2, PLN, PLOD1, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN1B,  SCN3B, SCN4B, SCN5A, SCO2, SGCD, SHOC2, SLC2A10, SKI, SNTA1, SMAD3, SOS1, SPRED1, SURF1,   TAZ, TCAP, TGFB2, TGFB3, TGFBR2, TGFBR1, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1,TRDN,  TRPM4, TTN, TTR, TXNRD2, VCL.

Specimen Requirements:

Test Performed (Days):

Turn Around Time:

Shipment Sensitivity Requirements:

References:

Additional Info: