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Enfermedades cardiovasculares

AORTOPATÍAS / TRASTORNOS AÓRTICOS: 65 genes – Plazos de entrega: 3-4 semanas

ABCC6, ABCC9, ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, ALDH18A1, ATP7A, B3GAT3, BGN, CBS, CHST14, COL1A1, COL1A2, COL2A1, COL3A1, COL4A5, COL5A1, COL5A2, EFEMP2, ELN, ENPP1, FBLN5, FBN1, FBN2, FKBP14, FLNA, FLNB, FOXE3, GAA, GATA5, HCN4, HRAS, KCNJ8, LOX, LTBP3, MAT2A, MED12, MFAP5, MYH11, MYLK, MYLK2, NKX2-5, NOTCH1, PLOD1, PLOD3, PRKG1, PTPN11, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZDHHC9, ZNF469

ARRITMIAS HEREDITARIAS: 160 genes – Plazos de entrega: 3-4 semanas

ABCC9, ACTC1, ACTN2, AKAP9, ALG10B, AMPD1, ANK2, ANKRD1, BAG3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CAVIN1, CDH2, CETP, CPT1A, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DBH, DES, DMD, DMPK, DPP6, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FHL2, FKRP, FKTN, FLNC, GAA, GATA4, GATA5, GATA6, GATAD1, GJA1, GJA5, GLA, GNAI2, GNB3, GPD1L, GTPBP3, GYG1, HADHA, HCN4, HEY2, HFE, HRAS, ILK, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNK3, KCNQ1, KCNQ2, KCNQ3, KCNT1, LAMA4, LAMP2, LDB3, LMNA, LMX1B, MTFMT, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYPN, NEXN, NKX2-5, NKX2-6, NOS1AP, NPPA, NRAS, NUP155, PCDH19, PDLIM3, PITX2, PKP2, PLN, PMP22, PRDM16, PRKAG2, PRRT2, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RBM20, RYR1, RYR2, SALL4, SCN10A, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN8A, SCN9A, SEMA3A, SGCD, SLC12A3, SLC19A2, SLC22A5, SLC25A20, SLC2A1, SLC4A3, SLMAP, SNTA1, SYNE2, TAZ, TBX20, TBX5, TCAP, TGFB3, TLL1, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL, XK

CANALOPATÍAS CARDÍACAS: 41 genes – Plazos de entrega: 3-4 semanas

ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, GPD1L, HCN4, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, NOS1AP, PKP2, PRKAG2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, SNTA1, TRDN, TRPM4

ENFERMEDADES CARDIOVASCULARES GLOBAL: 797 genes – Plazos de entrega: 3-4 semanas

AARS2, ABCA1, ABCB1, ABCC6, ABCC8, ABCC9, ABCG1, ABCG5, ABCG8, ABL1, ACAD9, ACADVL, ACE, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTN2, ACVR1, ACVR2B, ACVRL1, ADA2, ADAMTS10, ADAMTS17, ADAMTS19, ADAMTS2, ADAMTSL4, AEBP1, AFF4, AGK, AGL, AGPAT2, AGXT, AK7, AKAP9, AKT1, AKT2, AKT3, ALDH18A1, ALG1, ALG10, ALG10B, ALG8, ALMS1, ALOX5AP, ALX4, AMER1, AMPD1, ANGPTL3, ANK2, ANK3, ANKRD1, ANKRD11, ANKS6, ANO5, ANTXR1, APOA1, APOA2, APOA4, APOA5, APOB, APOC2, APOC3, APOE, APP, AQP1, ARHGAP31, ARID1A, ARID1B, ARL6, ARMC4, ASPH, ASS1, ATM, ATP5F1E, ATP6V0A2, ATP7A, ATPAF2, B3GALT6, B3GAT3, B4GALT7, B9D1, B9D2, BAG3, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BGN, BICC1, BLK, BMP1, BMP10, BMP2, BMPR1A, BMPR1B, BMPR2, BRAF, BSCL2, C12orf57, C1R, C1S, C2CD3, CABIN1, CACNA1C, CACNA1D, CACNA1H, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR, CALR3, CAPN3, CASQ2, CAV1, CAV3, CAVIN1, CAVIN4, CBL, CBS, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCM2, CCNO, CD46, CDC42, CDH2, CDKN1C, CEL, CEP290, CETP, CFAP298, CFAP53, CFC1, CFH, CFI, CHD4, CHD7, CHKB, CHRM2, CHST14, CIDEC, CITED2, CLCN2, CLDN16, CLDN19, CNNM2, COA5, COA6, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A2, COL4A5, COL5A1, COL5A2, COL6A1, COL6A3, COL7A1, COL9A1, COL9A2, COL9A3, COQ2, COX15, COX6B1, CPS1, CPT1A, CPT2, CREB3L3, CREBBP, CRELD1, CRTAP, CRYAB, CSRP3, CST3, CTC1, CTF1, CTNNA1, CTNNA3, CTNNB1, CYP11B1, CYP2D6, CYP3A4, CYP3A5, CYR61, DBH, DDX58, DEPDC5, DES, DHCR7, DLD, DLL4, DLST, DMD, DMPK, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC19, DNAL1, DNM1L, DOCK6, DOCK8, DOLK, DPM3, DPP6, DRC1, DSC2, DSE, DSG2, DSP, DTNA, DYRK1B, DYSF, EDN1, EEF1A2, EFEMP2, EFTUD2, EGF, EHMT1, EIF2AK3, EIF2AK4, ELAC2, ELN, EMD, ENG, ENPP1, EOGT, EP300, EPAS1, EPG5, EPHB4, EPHX2, EPOR, ETFA, ETFB, ETFDH, EVC, EVC2, EYA4, F10, F13A1, F13B, F2, F5, F7, F8, F9, FAH, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCI, FANCL, FBLN5, FBN1, FBN2, FBXL4, FGA, FGB, FGD1, FGG, FH, FHL1, FHL2, FHOD3, FKBP10, FKBP14, FKRP, FKTN, FLNA, FLNB, FLNC, FLT1, FLT4, FN1, FOXC1, FOXD4, FOXE3, FOXF1, FOXH1, FOXJ1, FOXP1, FOXP3, FOXRED1, FXN, FXYD2, G6PC3, GAA, GATA4, GATA5, GATA6, GATAD1, GBA, GBE1, GCK, GCKR, GDF1, GDF2, GDNF, GFM1, GGCX, GHR, GJA1, GJA5, GLA, GLB1, GLIS3, GLMN, GMPPB, GNAI2, GNAQ, GNB3, GNB5, GNPTAB, GORAB, GP1BA, GP1BB, GPC3, GPD1, GPD1L, GPIHBP1, GSK3B, GTPBP3, GUCY1A1, GUSB, GYG1, GYS1, HABP2, HADHA, HAMP, HAND1, HAND2, HBB, HCCS, HCN4, HDAC8, HEY2, HFE, HJV, HNF1A, HNF1B, HNF4A, HOXA1, HRAS, HRG, HSD11B2, HSPB8, HTRA1, IDH2, IDUA, IER3IP1, IFIH1, IL6, ILK, INS, INSIG2, INSR, INVS, IRX4, ISL1, ISPD, ITGA2B, ITGB3, IVD, JAG1, JAK2, JARID2, JPH2, JUP, KANSL1, KAT6B, KCNA1, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ11, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNK3, KCNQ1, KCNQ2, KCNQ3, KCNT1, KDM6A, KDR, KIF1B, KIF22, KIF7, KLF10, KLF11, KMT2D, KRAS, KRIT1, KYNU, LAMA2, LAMA4, LAMP2, LCAT, LDB3, LDLR, LDLRAP1, LEFTY2, LEP, LIAS, LIPA, LIPC, LMAN1, LMBRD1, LMF1, LMNA, LMX1B, LOX, LPA, LPL, LRP6, LRRC6, LTBP2, LTBP3, LTBP4, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, MAT2A, MAX, MCFD2, MCTP2, MED12, MED13L, MEF2A, MEF2C, MEGF8, MEIS2, MFAP5, MGP, MIB1, MID1, MKKS, MKS1, MLYCD, MMACHC, MMP3, MPL, MRPL3, MRPL44, MRPS22, MSTN, MSX2, MTFMT, MTHFR, MTO1, MTTP, MYBPC3, MYCN, MYH11, MYH6, MYH7, MYL2, MYL3, MYLIP, MYLK, MYLK2, MYO18B, MYO6, MYOM1, MYOT, MYOZ2, MYPN, NAA15, NDUFAF1, NDUFAF2, NDUFB11, NEBL, NEK8, NEUROD1, NEUROG3, NEXN, NF1, NF2, NFU1, NIPBL, NKX2-5, NKX2-6, NME8, NNT, NODAL, NOS1AP, NOS3, NOTCH1, NOTCH2, NOTCH3, NPC1L1, NPHP3, NPHP4, NPPA, NR2F2, NR3C1, NRAS, NSD1, NSDHL, NSUN2, NTRK3, NUP155, OBSCN, OFD1, OPA3, OTC, P3H1, PARS2, PAX4, PCCA, PCCB, PCDH15, PCDH19, PCNT, PCSK9, PDCD10, PDGFB, PDGFRA, PDGFRB, PDHA1, PDLIM3, PDX1, PGM1, PHKA1, PIK3CA, PIK3R2, PITX2, PKD1L1, PKD2, PKP2, PLEC, PLIN1, PLN, PLOD1, PLOD2, PLOD3, PLTP, PMM2, PMP22, PNP, PNPLA2, POMT1, PPARA, PPARG, PPIB, PRDM16, PRDM5, PRKAG2, PRKAR1A, PRKCH, PRKD1, PRKG1, PROC, PROS1, PROZ, PRRT2, PSEN1, PSEN2, PTEN, PTF1A, PTPN11, PUF60, PYCR1, PYGM, RAB23, RAB3GAP2, RAF1, RAI1, RANGRF, RARB, RASA1, RASA2, RBCK1, RBM10, RBM20, RECQL4, RERE, RET, RFT1, RFX6, RIN2, RIT1, RMND1, RNF213, RPGRIP1L, RRAS, RRAS2, RSPH1, RSPH4A, RSPH9, RYR1, RYR2, SALL1, SALL4, SAMD9, SAR1B, SARS2, SASH1, SCARB1, SCN10A, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN8A, SCN9A, SCNN1B, SCNN1G, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SELENON, SEMA3A, SEMA3E, SERPINC1, SERPIND1, SERPINE1, SERPINH1, SGCA, SGCB, SGCD, SGCG, SHOC2, SKI, SLC12A3, SLC19A2, SLC20A2, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC2A10, SLC2A2, SLC39A13, SLC40A1, SLC4A3, SLCO1B1, SLMAP, SLX4, SMAD1, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SMARCB1, SMC1A, SMC3, SMCHD1, SMS, SNTA1, SOS1, SOS2, SOX17, SOX2, SOX9, SP7, SPAG1, SPECC1L, SPEG, SPRED1, SPRED2, SREBF2, STAG2, STAMBP, STAT1, STIM1, STRA6, SURF1, SYNE1, SYNE2, SYNGAP1, TAB2, TAZ, TBC1D4, TBX1, TBX20, TBX3, TBX4, TBX5, TCAP, TCTN2, TDGF1, TEK, TERT, TFAP2B, TFR2, TGDS, TGFB2, TGFB3, TGFBR1, TGFBR2, THBD, THPO, TLL1, TMEM127, TMEM216, TMEM231, TMEM43, TMEM67, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TNXB, TOPBP1, TOR1AIP1, TP53, TPM1, TRDN, TREX1, TRIB1, TRIM32, TRIM63, TRPM4, TRPM6, TSFM, TTC8, TTN, TTR, TWIST1, TXNRD2, UPF3B, VARS2, VCAN, VCL, VCP, VHL, VPS13A, WAS, WDPCP, WFS1, WIPF1, WT1, XK, XYLT1, XYLT2, YWHAE, ZBTB17, ZDHHC9, ZEB2, ZFHX3, ZFPM2, ZHX3, ZIC3, ZMPSTE24, ZMYND10, ZNF469

FIBRILACIÓN AURICULAR: 45 genes – Plazos de entrega: 3-4 semanas

ABCC9, ACTC1, CACNB2, EMD, GATA4, GATA5, GATA6, GJA1, GJA5, HCN4, JPH2, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, LDB3, LMNA, NKX2-5, NKX2-6, NPPA, NUP155, PITX2, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TBX5, TNNI3, TNNI3K, TNNT2, TPM1, TTR, ZFHX3

HETEROTAXIA & SITUS INVERSUS: 41 genes – Plazos de entrega: 3-4 semanas

ACVR2B, AK7, ANKS6, ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP53, CFC1, CRELD1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DRC1, FOXH1, GDF1, INVS, LEFTY2, LRRC6, NKX2-5, NME8, NODAL, PKD1L1, RSPH1, RSPH4A, RSPH9, SPAG1, ZIC3, ZMYND10

HIPERTENSIÓN ARTERIAL PULMONAR: 32 genes – Plazos de entrega: 3-4 semanas

ABCA3, ABCC8, ACVRL1, AQP1, BMPR1B, BMPR2, CAV1, EDN1, EIF2AK4, ENG, FBN1, FLNA, FOXF1, FOXRED1, GDF2, HRAS, KCNA5, KCNK3, LIPT1, NF1, NFU1, NOTCH3, RASA1, RASA2, SARS2, SMAD1, SMAD4, SMAD9, SOX17, STRA6, TBX4, TOPBP1

MALFORMACIÓN CARDÍACA/CARDIOPATÍAS CONGÉNITAS: 237 genes – Plazos de entrega: 3-4 semanas

ABCC9, ABL1, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACVR1, ACVR2B, ACVRL1, ADAMTS10, ADAMTS17, AFF4, AKT3, ALMS1, AMER1, ANKRD1, ANKRD11, ARHGAP31, ARID1A, ARID1B, ARL6, B3GAT3, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BMPR2, BRAF, C12orf57, C2CD3, CBL, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CDKN1C, CEP290, CFAP53, CFC1, CHD4, CHD7, CHRM2, CITED2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CPS1, CREBBP, CRELD1, CTC1, CYR61, DHCR7, DLL4, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DOCK6, DTNA, EFEMP2, EFTUD2, EHMT1, EIF2AK4, ELN, ENG, EOGT, EP300, EVC, EVC2, EYA4, FBN1, FBN2, FKTN, FLNA, FLT4, FOXC1, FOXF1, FOXH1, FOXP1, G6PC3, GAA, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, GPC3, HAND1, HAND2, HDAC8, HOXA1, HRAS, INVS, IRX4, ISL1, JAG1, KANSL1, KAT6B, KCNA5, KCNJ8, KCNK3, KDM6A, KIF7, KMT2D, KRAS, KYNU, LEFTY2, LZTR1, MAP2K1, MAP2K2, MCTP2, MED12, MED13L, MEGF8, MEIS2, MFAP5, MIB1, MID1, MKKS, MKS1, MYBPC3, MYCN, MYH11, MYH6, MYH7, MYLK, MYO18B, NAA15, NEK8, NEXN, NF1, NIPBL, NKX2-5, NKX2-6, NME8, NODAL, NOTCH1, NOTCH2, NOTCH3, NPHP3, NPHP4, NR2F2, NRAS, NSD1, NSDHL, NTRK3, OFD1, PDGFRA, PIK3CA, PIK3R2, PITX2, PKD1L1, PLOD1, PRKD1, PRKG1, PTPN11, PUF60, RAB23, RAF1, RAI1, RASA1, RASA2, RBM10, RECQL4, RERE, RIT1, RPGRIP1L, RRAS, SALL1, SALL4, SEMA3E, SHOC2, SKI, SLC2A10, SMAD1, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SMARCB1, SMC1A, SMC3, SOS1, SOS2, SOX9, SPECC1L, SPRED1, STAG2, STRA6, TAB2, TBX1, TBX20, TBX5, TCTN2, TDGF1, TFAP2B, TGDS, TGFB2, TGFB3, TGFBR1, TGFBR2, TLL1, TMEM216, TMEM231, TMEM67, TNNI3, TNNI3K, TOPBP1, TRIM32, TTC8, TTN, TWIST1, UPF3B, WDPCP, ZDHHC9, ZEB2, ZFPM2, ZIC3

MIOCARDIOPATÍA (DISPLASIA) ARRITMOGÉNICA DEL VENTRÍCULO DERECHO: 52 genes – Plazos de entrega: 3-4 semanas

ACTN2, AKAP9, ANK2, ANKRD1, BAG3, CACNA1C, CACNB2, CASQ2, CAV3, CDH2, CTNNA1, CTNNA3, CTNNB1, DES, DSC2, DSG2, DSP, EMD, FLNC, GPD1L, HCN4, ILK, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LDB3, LMNA, MYH7, NKX2-5, PDLIM3, PKP2, PLN, PRKAG2, RANGRF, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43, TNNI3, TNNT2, TTN

MIOCARDIOPATÍA DILATADA: 141 genes – Plazos de entrega: 3-4 semanas

ABCC6, ABCC9, ACTA1, ACTC1, ACTN2, AKT1, ALMS1, ANKRD1, ANO5, APOA1, BAG3, BRAF, CALR3, CASQ2, CAV3, CAVIN4, CHRM2, COL7A1, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DNM1L, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA4, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FLT1, FOXD4, GAA, GATA4, GATA5, GATA6, GATAD1, GBE1, GLA, GLB1, GSK3B, GYG1, HAMP, HAND1, HCN4, HFE, IDH2, ILK, ISL1, JARID2, JPH2, JUP, KCND3, KCNJ2, LAMA2, LAMA4, LAMP2, LDB3, LMNA, MEF2C, MIB1, MLYCD, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOM1, MYOT, MYPN, NEBL, NEXN, NKX2-5, OBSCN, OPA3, PCCA, PCCB, PDLIM3, PKD2, PKP2, PLN, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAB3GAP2, RAF1, RANGRF, RBCK1, RBM20, RMND1, RYR2, SCN5A, SDHA, SGCA, SGCB, SGCD, SGCG, SLC22A5, SLC40A1, SPEG, SYNE1, SYNE2, TAB2, TAZ, TBX20, TBX5, TCAP, TFR2, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRIM63, TTN, TTR, TXNRD2, VCL, VPS13A, XK, ZBTB17

MIOCARDIOPATÍA HIPERTRÓFICA: 196 genes – Plazos de entrega: 3-4 semanas

AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGPAT2, AKT1, ALMS1, ANK2, ANKRD1, ANO5, APOA1, ATP5F1E, ATPAF2, BAG3, BRAF, BSCL2, CACNA1C, CALR, CALR3, CASQ2, CAV3, CAVIN4, CBL, CDH2, CHRM2, COA5, COA6, COL7A1, COQ2, COX15, COX6B1, CRYAB, CSRP3, CTF1, DES, DLD, DMD, DNAJC19, DNM1L, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, ELAC2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA4, FAH, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FLT1, FOXD4, FOXRED1, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GBE1, GFM1, GLA, GLB1, GNPTAB, GSK3B, GUSB, GYG1, HAMP, HAND1, HCN4, HFE, HRAS, IDH2, ILK, ISL1, JARID2, JPH2, JUP, KCND3, KCNJ2, KCNJ8, KLF10, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LIAS, LMNA, LZTR1, MAP2K1, MAP2K2, MEF2C, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOT, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NRAS, OBSCN, OPA3, PCCA, PCCB, PDHA1, PDLIM3, PHKA1, PKD2, PKP2, PLN, PMM2, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAB3GAP2, RAF1, RANGRF, RBCK1, RBM20, RIT1, RMND1, RYR2, SCN5A, SCO2, SDHA, SGCA, SGCB, SGCD, SGCG, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLC40A1, SOS1, SOS2, SPEG, SYNE1, SYNE2, TAB2, TAZ, TBX20, TBX5, TCAP, TFR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRIM63, TSFM, TTN, TTR, TXNRD2, VCL, VPS13A, XK, ZBTB17

MIOCARDIOPATÍA NO COMPACTADA: 69 genes – Plazos de entrega: 3-4 semanas

ABCC9, ACTC1, ACTN2, AKT1, AMPD1, ANKRD1, BAG3, CDH2, CSRP3, CTNNA3, DES, DMD, DMPK, DNAJC19, DSC2, DSG2, DSP, DTNA, EMD, FHL1, FHOD3, FLNC, GLA, HCN4, JARID2, JPH2, JUP, KCNH2, KCNQ1, KRAS, LAMP2, LDB3, LMNA, LMX1B, MIB1, MLYCD, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYPN, NEXN, NKX2-5, NNT, NOTCH1, PKP2, PLN, PMP22, PRDM16, PTPN11, RAF1, RBM20, RYR2, SCN5A, SGCD, SPEG, TAZ, TBX20, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, VCL, WT1, YWHAE

MIOCARDIOPATÍA RESTRICTIVA: 24 genes – Plazos de entrega: 3-4 semanas

ABCC9, ACTC1, ACTN2, ALMS1, BAG3, CRYAB, DES, FHL1, FHOD3, FLNC, GLA, HFE, LMNA, MYBPC3, MYH7, MYL2, MYL3, MYPN, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR

MIOCARDIOPATÍAS HEREDITARIAS GLOBAL: 277 genes – Plazos de entrega: 3-4 semanas

AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTA2, ACTC1, ACTN2, AGK, AGL, AGPAT2, AKAP9, AKT1, ALG10B, ALMS1, AMPD1, ANK2, ANKRD1, ANO5, APOA1, ATP5F1E, ATPAF2, B3GAT3, BAG3, BRAF, BSCL2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR, CALR3, CASQ2, CAV3, CAVIN4, CBL, CDH2, CHRM2, COA5, COA6, COL1A1, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, COL7A1, COQ2, COX15, COX6B1, CPT2, CRYAB, CSRP3, CTF1, CTNNA1, CTNNA3, CTNNB1, DES, DLD, DMD, DMPK, DNAJC19, DNM1L, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, EFEMP2, ELAC2, ELN, EMD, EPG5, ETFA, ETFB, ETFDH, EYA4, FAH, FBN1, FBN2, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNA, FLNC, FLT1, FOXD4, FOXE3, FOXRED1, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GBE1, GFM1, GJA5, GLA, GLB1, GNPTAB, GPD1L, GSK3B, GUSB, GYG1, HAMP, HAND1, HCN4, HFE, HRAS, IDH2, ILK, ISL1, JARID2, JPH2, JUP, KAT6B, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KLF10, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LIAS, LMNA, LMX1B, LOX, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAT2A, MED12, MEF2C, MFAP5, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOM1, MYOT, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NNT, NOTCH1, NPPA, NRAS, NUP155, OBSCN, OPA3, PCCA, PCCB, PDHA1, PDLIM3, PHKA1, PKD2, PKP2, PLN, PLOD1, PMM2, PMP22, PRDM16, PRKAG2, PRKG1, PSEN1, PSEN2, PTPN11, RAB3GAP2, RAF1, RANGRF, RASA1, RASA2, RBCK1, RBM20, RIT1, RMND1, RRAS, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SEMA3A, SGCA, SGCB, SGCD, SGCG, SHOC2, SKI, SLC22A5, SLC25A3, SLC25A4, SLC2A10, SLC40A1, SLMAP, SMAD3, SMAD4, SNTA1, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, SYNGAP1, TAB2, TAZ, TBX20, TBX5, TCAP, TFR2, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, VCL, VPS13A, WT1, XK, YWHAE, ZBTB17, ZDHHC9

MUERTE SÚBITA CARDÍACA / FIBRILACIÓN VENTRICULAR IDIOPÁTICA: 394 genes – Plazos de entrega: 3-4 semanas

AARS2, ABCA1, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTN2, ACVR2B, ACVRL1, ADAMTS2, AEBP1, AGK, AGL, AGPAT2, AKAP9, ALG1, ALG10, ALG10B, ALMS1, ANGPTL3, ANK2, ANKRD1, ANO5, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, ATP5F1E, ATP7A, ATPAF2, B4GALT7, BAG3, BBS10, BCOR, BGN, BMPR2, BRAF, C1R, C1S, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CAPN3, CASQ2, CAV1, CAV3, CAVIN1, CAVIN4, CBL, CBS, CCDC103, CCDC39, CCDC40, CCM2, CDH2, CETP, CFAP298, CHD7, CHRM2, CHST14, COA5, COA6, COL1A1, COL1A2, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COQ2, COX15, COX6B1, CPT1A, CPT2, CRELD1, CRYAB, CSRP3, CTF1, CTNNA3, DBH, DES, DLD, DMD, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC19, DNAL1, DOLK, DPM3, DPP6, DSC2, DSE, DSG2, DSP, DTNA, DYSF, EFEMP2, EIF2AK4, ELAC2, ELN, EMD, ENG, ENPP1, ETFA, ETFB, ETFDH, EYA4, FAH, FBLN5, FBN1, FBN2, FGD1, FHL1, FHL2, FHOD3, FKBP14, FKRP, FKTN, FLNA, FLNC, FOXE3, FOXF1, FOXH1, FOXRED1, FXN, G6PC3, GAA, GATA4, GATA5, GATA6, GATAD1, GBE1, GDF1, GDF2, GFM1, GJA1, GJA5, GLA, GLB1, GLMN, GNAI2, GNB3, GPC3, GPD1L, GTPBP3, GUCY1A1, GUSB, GYG1, GYS1, HADHA, HAMP, HAND1, HAND2, HCN4, HEY2, HFE, HJV, HRAS, HTRA1, IDUA, ILK, INVS, ISPD, JAG1, JPH2, JUP, KAT6B, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNK3, KCNQ1, KCNQ2, KCNQ3, KCNT1, KLF10, KRAS, KRIT1, LAMA2, LAMA4, LAMP2, LCAT, LDB3, LDLR, LDLRAP1, LIAS, LIPA, LMNA, LOX, LPL, LRP6, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAT2A, MED12, MED13L, MEF2A, MFAP5, MIB1, MKS1, MLYCD, MRPL3, MRPL44, MRPS22, MTFMT, MTO1, MTTP, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYO6, MYOM1, MYOT, MYOZ2, MYPN, NDUFAF1, NEBL, NEK8, NEXN, NF1, NKX2-5, NKX2-6, NME8, NODAL, NOS1AP, NOTCH1, NOTCH3, NPHP3, NPPA, NR2F2, NRAS, NSD1, NUP155, OBSCN, OFD1, PCCA, PCCB, PCDH19, PCSK9, PDCD10, PDLIM3, PGM1, PITX2, PKP2, PLEC, PLN, PLOD1, PMM2, PNPLA2, POMT1, PRDM16, PRKAG2, PRKG1, PROC, PROS1, PRRT2, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RASA1, RASA2, RBM20, RIT1, RMND1, RNF213, RRAS2, RYR1, RYR2, SALL4, SAR1B, SCN10A, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN8A, SCN9A, SCNN1B, SCNN1G, SCO1, SCO2, SDHA, SDHAF1, SDHD, SELENON, SEMA3A, SGCA, SGCB, SGCD, SGCG, SHOC2, SKI, SLC19A2, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC2A10, SLC40A1, SLC4A3, SLMAP, SMAD3, SMAD4, SMAD6, SMAD9, SMCHD1, SNTA1, SOS1, SOS2, SPEG, SPRED1, SYNE1, SYNE2, TAB2, TAZ, TBX1, TBX20, TBX5, TCAP, TEK, TFR2, TGFB2, TGFB3, TGFBR1, TGFBR2, TLL1, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TNXB, TPM1, TRDN, TRIM32, TRIM63, TRPM4, TSFM, TTC8, TTN, TTR, TXNRD2, VCL, VCP, VPS13A, XK, ZBTB17, ZFPM2, ZIC3, ZNF469

RASOPATÍAS (INCLUYE SÍNDROME DE NOONAN): 37 genes – Plazos de entrega: 3-4 semanas

ACTB, ACTG1, BMP2, BRAF, CABIN1, CBL, CDC42, EPHB4, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, NF1, NF2, NRAS, NSUN2, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, SPRED2, STAMBP, SYNGAP1

SÍNDROME DE BRUGADA: 26 genes – Plazos de entrega: 3-4 semanas

ABCC9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, GPD1L, HCN4, KCND2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, TRPM4

SÍNDROME DE EHLERS-DANLOS: 61 genes – Plazos de entrega: 3-4 semanas

ABCC6, ACTA2, ADAMTS2, ADAMTSL2, AEBP1, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, CHST14, CHST3, COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A2, COL6A3, CRTAP, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FLNB, GGCX, GORAB, LOX, LTBP4, LZTS1, P3H1, PLOD1, PLP1, PRDM5, PYCR1, RIN2, ROBO3, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF1A, TNXB, ZNF469

SÍNDROME DE LOEYS-DIETZ: 7 genes – Plazos de entrega: 3-4 semanas

FBN1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2

SÍNDROME DE MARFAN, ANEURISMA AÓRTICO TORÁCICO Y TRASTORNOS RELACIONADOS: 77 genes – Plazos de entrega: 3-4 semanas

ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BGN, BMP1, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A1, COL6A3, COL9A1, COL9A2, COL9A3, CRTAP, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP10, FKBP14, FLNA, FOXE3, GORAB, KIF22, LOX, LTBP4, MED12, MSTN, MYH11, MYLK, NOTCH1, P3H1, PLOD1, PLOD2, PLOD3, PPIB, PRDM5, PYCR1, RIN2, SERPINH1, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SMS, SP7, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, UPF3B, VCAN, ZDHHC9, ZNF469

SÍNDROME DE QT CORTO: 8 genes – Plazos de entrega: 3-4 semanas

CACNA1C, CACNA1D, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1, SLC22A5

SÍNDROME DE QT LARGO: 32 genes – Plazos de entrega: 3-4 semanas

AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, CAVIN1, FHL2, HCN4, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SLC12A3, SLC22A5, SNTA1, TRDN, TRPM4

TAQUICARDIA VENTRICULAR POLIMÓRFICA CATECOLAMINÉRGICA: 13 genes – Plazos de entrega: 3-4 semanas

ANK2, CALM1, CALM2, CALM3, CASQ2, GNAI2, KCNJ2, KCNQ1, LMNA, RYR2, SCN5A, TRDN

TRASTORNOS DE LA CONDUCCIÓN CARDÍACA: 41 genes – Plazos de entrega: 3-4 semanas

DES, EMD, HCN4, LAMP2, LMNA, NKX2-5, PRKAG2, SCN5A, TBX5, ACTC1, CACNA1D, GAA, GJA5, GLA, GNB2, KCNJ2, MYH6, SCN1B, SLC22A5, TNNI3K, TRPM4, TTR, CALR, CAVIN4, DSC2, DSG2, DSP, GATA4, HFE, IRX3, JUP, KCNE2, KCNH2, KCNK17, KCNQ1, LDB3, MYBPHL, MYH7, NPPA, PITX2, PKP2, RYR2, SCN4B, SLMAP

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