Purpose/Principle

The CHCO Congenital Heart Disease Panel employs next-generation sequencing technology to detect genomic variants in genes associated with a wide spectrum of congenital cardiac anomalies. These conditions include, but are not limited to, conotruncal defects, atrioventricular septal defects, left and right heart obstructive lesions, heterotaxy, single ventricle physiology, and ventricular and atrial septal defects. Additionally, the panel includes genes implicated in syndromic forms of congenital heart disease (CHD), such as Alagille syndrome, Noonan syndrome and related RASopathies, DiGeorge syndrome, and CHARGE syndrome. Furthermore, the panel assesses genes linked to multisystemic disorders and metabolic conditions with prominent congenital heart involvement, allowing for a comprehensive genetic evaluation of both isolated and syndromic CHD presentations.

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, ABCC6, ABCC9, ABL1, ACTA2, ACTB, ACTC1, ACTG1, ACTN2, ACVR1, ACVR2B, ADAMTS10, AEBP1, AFF4, AHI1, AK7, AKAP9, AKT3, ALMS1, ALPK3, AMMECR1, ANK2, ANKRD1, ANKS3, ANKS6, ARHGAP31, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ATRX, B3GAT3, B3GLCT, B9D1, B9D2, BAG3, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BGN, BMPR2, BRAF, BRCA1, BRCA2, BRD4, BRIP1, C2CD3, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV3, CAVIN4, CBL, CBS, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CDH2, CDK13, CDKN1C, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFAP221, CFAP298, CFAP300, CFAP52, CFAP53, CFAP57, CFC1, CFTR, CHD4, CHD7, CIMAP3, CITED2, COL3A1, COL5A1, COL5A2, CPS1, CREBBP, CRELD1, CRYAB, CSPP1, CSRP3, CTNNA3, CTNND1, DAW1, DCDC2, DCHS1, DDX59, DES, DHCR7, DISP1, DLL4, DMD, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH6, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DOCK6, DOLK, DPF2, DPP6, DRC1, DSC2, 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, FAT4, FBLN5, FBN1, FBN2, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNA, FLNC, FLT4, FOXC1, FOXE3, FOXF1, FOXH1, FOXJ1, GAA, GALNT11, GANAB, GAS2L2, GAS8, GATA1, GATA4, GATA5, GATA6, GATAD1, GDF1, GJA1, GJA5, GLA, GLIS2, GPC3, GPD1L, GRK5, HAND1, HAND2, HCN4, HDAC8, HEY2, HNRNPK, HOXA1, HPGD, HRAS, HYDIN, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT80, ILK, INPP5E, INTU, INVS, IPO8, IQCB1, IQGAP1, JAG1, JPH2, JUP, KAT6B, KATNIP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KDM6A, KIAA0586, KIAA0753, KIF14, KIF3B, KIF7, KMT2D, KRAS, LAMA4, LAMP2, LDB3, LEFTY2, LMNA, LONP1, LOX, LRRC56, LTBP3, LZTFL1, LZTR1, 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, MYO6, MYOZ2, MYPN, MYRF, NAA15, NEBL, NEK1, NEK8, NEXN, NF1, NFATC1, NFE2L2, NHS, NIPBL, NKAP, NKX2-5, NKX2-6, NME5, NME7, NME8, NODAL, NONO, NOTCH1, NOTCH2, NPHP1, NPHP3, NPHP4, NPPA, NR2F2, NRAP, NRAS, NSD1, NSUN2, NTRK3, NUP155, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, PACRG, PALB2, PDE6B, PDE6D, PDGFRA, PDLIM3, PFKP, PHF6, PIBF1, PIK3CA, PIK3R2, PITX2, PKD1L1, PKD2, PKHD1, PKP2, PLD1, PLN, PLOD1, POC1B, PPCS, PPP1CB, PRDM16, PRDM6, PRKACA, PRKACB, PRKAG2, PRKAR1A, PRKD1, PRKG1, PTPN11, PUF60, RAB23, RAD21, RAD51, RAD51C, RAF1, RAI1, RANGRF, RASA2, RBFOX2, RBM10, RBM20, RBPJ, RECQL4, RERE, RFWD3, RFX2, RIT1, ROR2, RPGR, RPGRIP1L, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS6KA3, RPS7, RRAS, RRAS2, RREB1, RSPH1, RSPH3, RSPH4A, RSPH9, RYR2, SALL1, SALL4, SCLT1, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDCCAG8, SEMA3E, SGCD, SGCG, SHOC2, SHROOM3, SKI, SLC2A10, SLC4A3, SLMAP, SLX4, SMAD2, SMAD3, SMAD4, SMAD6, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMS, SNTA1, SOS1, SOS2, SOX11, SOX4, SPAG1, SPAG16, SPEF2, SPRED1, SPRED2, STAG2, STK36, STRA6, TAB2, TAFAZZIN, TANGO2, TBC1D32, TBX1, TBX2, TBX20, TBX5, TCAP, TCTN1, TCTN2, TCTN3, TECRL, TEKT1, TFAP2B, TGDS, TGFB2, TGFB3, TGFBR1, TGFBR2, TLL1, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM43, TMEM67, TMEM94, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM32, TRPM4, TTC12, TTC21B, TTC8, TTN, TTR, TWIST1, TXNRD2, UBE2T, VCL, WDPCP, WDR19, WDR35, WNT5A, XRCC2, YWHAZ, ZEB2, ZFPM2, ZIC3, ZMIZ1, ZMYND10, ZMYND8, ZNF423