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: