Purpose/Principle

The CHCO Pan-Cardiology Panel utilizes next-generation sequencing (NGS) technology to detect genomic variants in 646 genes associated with a diverse range of inherited cardiovascular conditions. Broadly, this includes genes implicated in arrhythmias, cardiomyopathies, congenital heart disease (CHD), thoracic aortic and connective tissue disorders, and pulmonary arterial hypertension (PAH). Specific conditions assessed through this panel include, but are not limited to, Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), Long QT Syndrome (LQTS), Brugada Syndrome (BrS), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Left Ventricular Noncompaction (LVNC), Alagille syndrome, Noonan syndrome and related RASopathies, Marfan syndrome, Loeys-Dietz syndrome, Vascular Ehlers-Danlos Syndrome, inherited PAH, and multisystem syndromes where cardiovascular anomalies are primary or secondary features.

The assay interrogates the coding regions and flanking intronic bases of the cited genes, with the capacity to detect single nucleotide variants (SNVs), small insertions and deletions (indels), 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.

Detection capabilities emphasize the identification of pathogenic variants, which is crucial for understanding the underlying genetic mechanisms of inherited cardiovascular conditions and guiding personalized therapeutic strategies.

A2ML1, ABCA3, ABCC6, ABCC8, ABCC9, ABCG5, ABCG8, ABL1, ACADVL, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTN2, ACVR1, ACVR2B, ACVRL1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, AEBP1, AFF4, AGL, AHI1, AK7, AKAP9, AKT3, ALDH18A1, ALMS1, ALPK3, AMMECR1, ANK2, ANKRD1, ANKS3, ANKS6, APOA4, APOA5, APOC2, APOE, AQP1, ARHGAP31, ARID1A, ARID1B, ARID2, ARIH1, ARL13B, ARL6, ATP13A3, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, ATRX, B3GALT6, B3GAT3, B3GLCT, B4GALT7, B9D1, B9D2, BAG3, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BGN, BMPR1B, BMPR2, BRAF, BRCA1, BRCA2, BRD4, BRIP1, C1S, C2CD3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV1, CAV3, CAVIN4, CBL, CBS, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CDH2, CDK13, CDKN1C, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CETP, CFAP221, CFAP298, CFAP300, CFAP52, CFAP53, CFAP57, CFC1, CFTR, CHD4, CHD7, CHRM2, CHST14, CHST3, CIMAP3, CITED2, COG7, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COX15, CPS1, CPT2, CREB3L3, CREBBP, CRELD1, CRTAP, CRYAB, CSPP1, CSRP3, CTF1, CTNNA3, CTNND1, DAW1, DCDC2, DCHS1, DDX59, DEPDC5, DES, DHCR7, DISP1, DLL4, DMD, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH6, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJC19, DNAL1, DOCK6, DOLK, DPF2, DPP6, DRC1, DSC2, DSE, DSG2, DSP, DTNA, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EFEMP2, EFTUD2, EHMT1, EIF2AK4, ELAC2, ELN, EMD, ENG, EOGT, EP300, ERCC4, ESCO2, EVC, EVC2, EXOC8, EYA4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FARSB, FAT4, FBLN5, FBN1, FBN2, FHL1, FHL2, FHOD3, FKBP14, FKRP, FKTN, FLCN, FLNA, FLNB, FLNC, FLT4, FOXC1, FOXE3, FOXF1, FOXH1, FOXJ1, GAA, GALNT11, GANAB, GAS2L2, GAS8, GATA1, GATA4, GATA5, GATA6, GATAD1, GCKR, GDF1, GDF2, GGCX, GJA1, GJA5, GLA, GLIS2, GORAB, GPC3, GPD1L, GPIHBP1, GRK5, HADHA, HAND1, HAND2, HCN4, HDAC8, HEY2, HFE, HNRNPK, HOXA1, HPGD, HRAS, HSPB8, HYDIN, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT80, ILK, INPP5E, INTU, INVS, IPO8, IQCB1, IQGAP1, JAG1, JPH2, JUP, KAT6B, KATNIP, KCNA1, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KCNQ2, KCNQ3, KCNT1, KDM6A, KDR, KIAA0586, KIAA0753, KIF14, KIF20A, KIF3B, KIF7, KLF10, KLF2, KMT2D, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LEFTY2, LEMD3, LMF1, LMNA, LONP1, LOX, LOXL3, LPL, LRRC10, LRRC56, LTBP2, LTBP3, LTBP4, LZTFL1, LZTR1, LZTS1, MAD2L2, MAP2K1, MAP2K2, MAP3K8, MAPK1, MAT2A, MCIDAS, MCTP2, MED12, MED12L, MED13L, MEGF8, MEIS2, MFAP5, MIB1, MKKS, MKS1, MMP21, MNS1, MRAS, MTO1, MYBPC3, MYCN, MYH11, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK, MYLK2, MYLK3, MYO6, MYOM1, MYOZ2, MYPN, MYRF, NAA15, NEBL, NEK1, NEK8, NEXN, NF1, NFATC1, NFE2L2, NFU1, NHS, NIPBL, NKAP, NKX2-5, NKX2-6, NME5, NME7, NME8, NODAL, NOG, NONO, NOTCH1, NOTCH2, NOTCH3, NPHP1, NPHP3, NPHP4, NPPA, NR2F2, NRAP, NRAS, NSD1, NSUN2, NTRK3, NUP155, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, P3H1, PACRG, PALB2, PCCA, PCCB, PCDH19, PDE6B, PDE6D, PDGFRA, PDLIM3, PFKP, PHF6, PIBF1, PIK3CA, PIK3R2, PITX2, PKD1L1, PKD2, PKHD1, PKP2, PLD1, PLEKHM2, PLN, PLOD1, PLOD3, POC1B, PPA2, PPCS, PPP1CB, PRDM16, PRDM5, PRDM6, PRKACA, PRKACB, PRKAG2, PRKAR1A, PRKD1, PRKG1, PRRT2, PTPN11, PUF60, PYCR1, RAB23, RAD21, RAD51, RAD51C, RAF1, RAI1, RANGRF, RASA1, RASA2, RBFOX2, RBM10, RBM20, RBPJ, RECQL4, RERE, RFWD3, RFX2, RIN2, RIT1, ROR2, RPGR, RPGRIP1L, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS6KA3, RPS7, RRAS, RRAS2, RREB1, RSPH1, RSPH3, RSPH4A, RSPH9, RYR1, RYR2, SALL1, SALL4, SARS2, SCLT1, SCN10A, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN8A, SCN9A, SCO2, SDCCAG8, SDHA, SELENON, SEMA3E, SGCD, SGCG, SHOC2, SHROOM3, SKI, SLC22A5, SLC25A4, SLC26A2, SLC2A1, SLC2A10, SLC39A13, SLC4A3, SLMAP, SLX4, SMAD1, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMS, SNTA1, SOS1, SOS2, SOX11, SOX17, SOX4, SPAG1, SPAG16, SPARC, SPEF2, SPRED1, SPRED2, SREBF2, STAG2, STK36, STRA6, TAB2, TAFAZZIN, TALDO1, TANGO2, TBC1D32, TBX1, TBX2, TBX20, TBX3, TBX4, TBX5, TCAP, TCTN1, TCTN2, TCTN3, TECRL, TEKT1, TET2, TFAP2B, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TLL1, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM43, TMEM67, TMEM70, TMEM94, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM32, TRIM63, TRPM4, TTC12, TTC21B, TTC8, TTN, TTR, TWIST1, TXNRD2, UBE2T, UPF3B, VCL, WDPCP, WDR19, WDR35, WNT5A, XRCC2, YWHAZ, ZBTB17, ZEB2, ZFPM2, ZHX3, ZIC3, ZMIZ1, ZMYND10, ZMYND8, ZNF423, ZNF469