Combined Hereditary Cardiomyopathy and Arrhythmia Test

Clinical Indications

Consider this combined panel when the clinical presentation involves features of both cardiomyopathy and arrhythmia, early onset atrial fibrillation, when evaluating families affected by sudden cardiac death, for a broad initial workup of newly diagnosed inherited heart disease, or when the diagnosis is still evolving or not yet fully characterized.

Scope / Genes Tested

ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, ANK2, BAG3, BRAF, CACNA1C, CALM1, CALM2, CALM3, CASQ2, CAV3, CBL, CDH2, CPT2, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GATA4, GATA6, GJA5, GLA, HAND1, HCN4, HFE, HRAS, JPH2, JUP, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ8, KCNQ1, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYPN, NEXN, NF1, NKX2-5, NPPA, NRAS, PKP2, PLN, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SDHA, SGCD, SHOC2, SLC22A5, SOS1, SOS2, TAFAZZIN, TBX20, TCAP, TECRL, TGFB3, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, VCL

Test Details

• Specimen Source: Buccal (cheek) swab
• Sequencing Technology: Whole Exome Sequencing

Analytical Performance

This test detects >99.5% of described mutations in the targeted genes, including single nucleotide variants, small insertions and deletions, and multi-exon copy number changes.

Clinical Utility

This panel combines the clinical benefits of both tests. See the individual Hereditary Cardiomyopathy and Hereditary Arrhythmia test pages for details on how results guide care.