• Test Code:
  • Department:
  • 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:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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