Purpose/Principle

The CHCO Arrhythmia and Cardiomyopathy Panel utilizes next-generation sequencing technology to detect genomic variants in genes associated with inherited cardiac conditions, including but not limited to Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), Long QT Syndrome (LQTS), Short QT Syndrome (SQTS), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Brugada Syndrome (BrS), Restrictive Cardiomyopathy (RCM), and Left Ventricular Noncompaction (LVNC). This panel also includes genes implicated in syndromic conditions such as Danon disease, Fabry disease, and Barth syndrome, as well as multisystemic syndromic disorders and metabolic diseases where arrhythmia and cardiomyopathy are prominent features.

The assay interrogates the coding regions and flanking intronic bases of the cited genes, with the capacity to detect sequence variants, and copy number variants (CNVs). Uniform genomic coverage is achieved through standardized specimen processing and short-read sequencing. Sequencing data are monitored by quality control metrics to ensure high confidence in the accuracy and specificity of the variant calls. The CNV resolution threshold is approximately 1 Mb, although smaller events may be detected depending on regional complexity and data quality.

A2ML1, ABCC9, ABCG5, ABCG8, ACADVL, ACTA1, ACTA2, ACTC1, ACTN2, AGL, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, APOA4, APOA5, APOC2, APOE, BAG3, BRAF, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV3, CAVIN4, CBL, CBS, CDH2, CETP, CHRM2, COL3A1, COL5A2, COX15, CPT2, CREB3L3, CRELD1, CRYAB, CSRP3, CTF1, CTNNA3, DEPDC5, DES, DMD, DNAJC19, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, EFEMP2, ELAC2, ELN, EMD, EYA4, FBN1, FBN2, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GATA5, GATA6, GATAD1, GCKR, GJA5, GLA, GPD1L, GPIHBP1, HADHA, HAND1, HCN4, HFE, HRAS, HSPB8, ILK, JAG1, JPH2, JUP, KCNA1, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KCNQ2, KCNQ3, KCNT1, KIF20A, KLF10, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LMF1, LMNA, LPL, LRRC10, LTBP2, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, MED12, MIB1, MRAS, MTO1, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK, MYLK2, MYLK3, MYO6, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NODAL, NOTCH1, NPPA, NRAP, NRAS, NSUN2, NUP155, PCCA, PCCB, PCDH19, PDLIM3, PKP2, PLEKHM2, PLN, PPA2, PPCS, PPP1CB, PRDM16, PRKAG2, PRKAR1A, PRRT2, PTPN11, RAF1, RANGRF, RASA1, RASA2, RBM20, RIT1, RRAS, RRAS2, RREB1, RYR1, RYR2, SALL4, SCN10A, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN8A, SCN9A, SCO2, SDHA, SELENON, SGCD, SGCG, SHOC2, SLC22A5, SLC25A4, SLC2A1, SLC2A10, SLC4A3, SLMAP, SMAD3, SMAD4, SNTA1, SOS1, SOS2, SPRED1, SPRED2, SREBF2, TAFAZZIN, TANGO2, TBX20, TBX3, TBX5, TCAP, TECRL, TGFB2, TGFB3, TGFBR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, TXNRD2, VCL, YWHAZ, ZBTB17, ZHX3, ZIC3