A sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular de doenças hereditárias e tornou-se uma abordagem essencial à prática clínica diária em múltiplas especialidades médicas.

A Genetyca-ICM by Atrys disponibiliza um conjunto alargado de painéis dirigidos e baseados em exoma, garantindo uma maior sensibilidade e especificidade para cada teste.


Enquanto que os painéis dirigidos permitem uma melhor cobertura dos genes incluídos em cada painel, principalmente no caso de existirem pseudogenes ou regiões de elevada homologia, os painéis baseados em exoma permitem uma análise mais alargada e personalizada assim como reanálise e/ou alargamento de acordo com a evolução clínica.


  • Anomalias cardíacas estruturais congénitas (Painel NGS de 126 genes)
  • Aortopatias (Painel NGS de 77 genes)
  • Arritmia (Painel NGS de 91 genes)
  • Amiloidose hereditária (Painel NGS de 20 genes)
  • Arritmia e morte súbita (Painel NGS de 137 genes)
  • Canalopatias cardíacas (Painel NGS de 51 genes)
  • Dissecção da artéria cervical (Painel NGS de 10 genes)
  • Displasia arritmogénica ventricular direita – DAVD (Painel NGS de 26 genes)
  • Fibrilação auricular (Painel NGS de 27 genes)
  • Miocardiopatias (Painel NGS de 264 genes – inclui análise do DNA mitocondrial)
  • Miocardiopatia Arritmogénica (Painel NGS de 26 genes)
  • Miocardiopatia dilatada (Painel NGS de 155 genes – inclui análise de DNA mitocondrial)
  • Miocardiopatia e alterações da condução cardíaca (Painel NGS de 284 genes – inclui análise de DNA mitocondrial)
  • Miocardiopatia dilatada e alterações da condução cardíaca (Painel NGS de 196 genes – inclui análise de DNA mitocondrial)
  • Miocardiopatia dilatada e não-compactação ventricular esquerda (NCVE) (Painel NGS de 165 genes – inclui análise de DNA mitocondrial)
  • Miocardiopatia hipertrófica (Painel NGS de 121 genes – inclui análise de DNA mitocondrial)
  • Morte Súbita (Painel NGS de 120 genes)
  • Não-compactação ventricular esquerda – NCVE (Painel NGS de 49 genes)
  • Síndrome de Brugada (Painel NGS de 44 genes)
  • Síndrome de Ehlers-Danlos (Painel NGS de 44 genes)
  • Síndrome de Ehlers-Danlos, Marfan, Loeys-Dietz e aneurisma da aorta (Painel NGS de 121 genes)
  • Síndrome de Marfan (Painel NGS de 50 genes)
  • Síndrome de Marfan e aneurisma da aorta torácica (Painel NGS de 34 genes)
  • Síndrome de Noonan (Painel NGS de 38 genes)
  • Síndrome de QT curto (Painel NGS de 6 genes)
  • Síndrome de QT longo (Painel NGS de 22 genes)
  • Síndrome de QT longo e QT curto (Painel NGS de 22 genes)
  • Taquicardia ventricular catecolaminérgica polimórfica (Painel NGS de 10 genes)
Anomalias cardíacas estruturais congénitas (Painel NGS de 126 genes)

ABL1, ACTA2, ACTB, ACTC1, ACTG1, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, AFF4, AMMECR1, ARHGAP31, ARID1A, ARID1B, B3GAT3, B3GLCT, BCOR, BMPR2, BRAF, C12ORF57, C2CD3, CASZ1, CBL, CDK13, CDK9, CDKN1C, CFAP53, CHD4, CHD7, CHRM2, CREBBP, CRELD1, CTC1, DHCR7, DLL4, DOCK6, EFTUD2, EHMT1, EIF2AK4, ELN, ENG, EOGT, EP300, EVC, EVC2, FKTN, FLNA, FLT4, FOXC1, FOXF1, FOXH1, FOXP1, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, GPC3, HAND1, HAND2, HDAC8, HNRNPK, HOXA1, HRAS, JAG1, KDM6A, KMT2D, KRAS, KYNU, LEFTY2, LZTR1, MED12, MED13L, MEGF8, MEIS2, MMP21, MYCN, MYO18B, MYRF, NAA15, NEXN, NF1, NIPBL, NKX2-5, NKX2-6, NODAL, NONO, NOTCH1, NOTCH2, NR2F2, NSD1, PITX2, PKD1L1, PLD1, PPP1CB, PRDM6, PRKD1, PTPN11, PUF60, RAB23, RAF1, RBM10, RECQL4, RERE, RIT1, SALL4, SMARCB1, SMC1A, SMC3, SOS1, SOS2, STAG2, STRA6, TAB2, TBX1, TBX20, TBX5, TFAP2B, TGDS, TLL1, TMEM94, TWIST1, ZEB2, ZFPM2, ZIC3

Aortopatias (Painel NGS de 77 genes)

ABCC6, ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A5, COL5A1, COL5A2, COL9A1, COL9A2, COLGALT1, DSE, EFEMP2, ELN, ENPP1, FBLN5, FBN1, FBN2, FKBP14, FLNA, FOXE3, GATA5, HCN4, LOX, LTBP1, LTBP2, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PLOD3, PRDM5, PRKG1, PYCR1, ROBO4, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, THSD4, TNXB, ZDHHC9, ZNF469

Arritmia (Painel NGS de 91 genes)

ABCC9, AKAP9, ALG10B, ANK2, BAG3, BVES, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CDH2, CTNNA3, DBH, DES, DPP6, DSC2, DSG2, DSG3, DSP, EMD, FGF12, FLNC, GATA6, GJA5, GNB2, GNB5, GPD1L, HADHA, HCN4, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, LDB3, LEMD2, LMNA, MIB1, MYH6, MYH7, MYL4, NKX2-5, NOS1AP, NPPA, NUP155, PKP2, PLN, POPDC2, PPA2, PRKAG2, RANGRF, RBM20, RYR2, SALL4, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLC12A3, SLC4A3, SLMAP, SNTA1, TANGO2, TBX5, TECRL, TGFB3, TMEM43, TNNI3, TNNI3K, TNNT2, TRDN, TRPM4, TTN

Amiloidose hereditária (Painel NGS de 20 genes)

APOA1, APOA2, APOC2, APP, B2M, CST3, FGA, GPNMB, GSN, IL31RA, ITM2B, LYZ, MEFV, NLRP3, OSMR, PRNP, TACSTD2, TGFBI, TNFRSF1A, TTR

Arritmia e morte súbita (Painel NGS de 137 genes)

ABCC9, ACTC1, ACTN2, AKAP9, ALG10B, ALPK3, ANK2, ANKRD1, BAG3, BAG5, BVES, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV3, CDH2, CRYAB, CSRP3, CTNNA3, DBH, DES, DMD, DOLK, DPP6, DSC2, DSG2, DSG3, DSP, DTNA, EMD, EYA4, FBN1, FBN2, FGF12, FHL1, FHOD3, FKRP, FKTN, FLNC, GATA6, GATAD1, GJA5, GLA, GNB2, GNB5, GPD1L, HADHA, HCN4, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, LAMA4, LAMP2, LDB3, LEMD2, LMNA, MIB1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYOZ2, MYPN, NEXN, NKX2-5, NOS1AP, NPPA, NUP155, PKP2, PLN, POPDC2, PPA2, PPCS, PRDM16, PRKAG2, PSEN1, PSEN2, RAF1, RANGRF, RBM20, RPL3L, RYR2, SALL4, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SDHA, SEMA3A, SGCD, SLC12A3, SLC25A4, SLC4A3, SLMAP, SNTA1, TAFAZZIN, TANGO2, TBX5, TCAP, TECRL, TGFB3, TGFBR2, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, VCL

Canalopatias cardíacas (Painel NGS de 51 genes)

ABCC9, ACTN2, AKAP9, ANK2, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, DSC2, DSG2, DSP, FGF12, GPD1L, HCN4, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, NOS1AP, PKP2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, SNTA1, TCAP, TECRL, TNNC1, TNNI3, TNNT2, TRDN, TRPM4

Dissecção da artéria cervical (Painel NGS de 10 genes)

ABCC6, COL3A1, COL4A1, COL4A3, COL4A4, COL5A1, COL5A2, FBN1, MEF2A, RNF213

Displasia arritmogénica ventricular direita – DAVD (Painel NGS de 26 genes)

BAG3, CDH2, CTNNA3, DES, DSC2, DSG2, DSP, EMD, FLNC, JUP, LDB3, LEMD2, LMNA, MYBPC3, MYH7, MYL3, NKX2-5, PKP2, PLN, PRKAG2, RYR2, SCN5A, TGFB3, TJP1, TMEM43, TTN

Fibrilação auricular (Painel NGS de 27 genes)

ABCC9, CACNB2, DPP6, GATA6, GJA5, HCN4, KCNA5, KCNE1, KCNE2, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNQ1, LDB3, LMNA, MYL4, NPPA, NUP155, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TBX5

Miocardiopatias (Painel NGS de 264 genes – inclui análise do DNA mitocondrial)

AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, ALMS1, ALPK3, ANKRD1, ANO5, APOA1, ATP5F1E, BAG3, BAG5, BRAF, CACNA1C, CALR3, CAPN3, CASQ2, CASZ1, CAV3, CAVIN4, CBL, CDH2, CHKB, CHRM2, COA5, COA6, COQ2, COX15, CPT2, CRPPA, CRYAB, CSRP3, CTNNA3, DBH, DES, DMD, DNAJC19, DOLK, DPM3, DSC2, DSG2, DSG3, DSP, DTNA, DYSF, EEF1A2, ELAC2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA4, FBXL4, FBXO32, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXD4, FOXRED1, GAA, GATA4, GATA6, GATAD1, GATC, GBE1, GET3, GFM1, GLA, GLB1, GMPPB, GSK3B, GTPBP3, GUSB, GYG1, HADHA, HAND1, HCN4, HFE, HRAS, IDUA, ILK, ISPD, JPH2, JUP, KIF20A, KLF10, KLHL24, KRAS, LAMA2, LAMA4, LAMP2, LARGE, LARGE1, LDB3, LEMD2, LIMS2, LMNA, LMOD2, LRRC10, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, MCM10, MIB1, MIPEP, MLYCD, MRAS, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYO6, MYOM1, MYOT, MYOZ2, MYPN, MYRF, NDUFAF2, NDUFB11, NEBL, NEXN, NF1, NKX2-5, NONO, NPPA, NRAP, NRAS, OBSCN, PCCA, PCCB, PDLIM3, PKP2, PLEC, PLEKHM2, PLN, PMM2, PNPLA2, PPA2, PPCS, PPP1CB, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, QRSL1, RAB3GAP2, RAF1, RASA2, RBCK1, RBM20, RIT1, RMND1, RPL3L, RRAS2, RYR2, SCN2B, SCN5A, SCNN1B, SCNN1G, SCO1, SCO2, SDHA, SELENON, SGCA, SGCB, SGCD, SGCG, SHOC2, SLC22A5, SLC25A20, SLC25A4, SLC40A1, SMCHD1, SOS1, SOS2, SPEG, SPRED1, SPRED2, SYNE1, SYNE2, TAB2, TAFAZZIN, TBX20, TBX5, TCAP, TFR2, TGFB3, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRIM32, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, VCL, VCP, VEZF1, VPS13A, XK

Miocardiopatia Arritmogénica (Painel NGS de 26 genes)

ACTN2, BAG3, CDH2, DES, DSC2, DSG2, DSG3, DSP, EMD, FLNC, JUP, LMNA, MIB1, NKX2-5, PKP2, PLN, PPA2, PRKAG2, RBM20, RYR2, SCN5A, TGFB3, TMEM43, TNNI3, TNNT2, TTN

Miocardiopatia dilatada (Painel NGS de 155 genes – inclui análise de DNA mitocondrial)

ABCC6, ABCC9, ACADVL, ACTA1, ACTC1, ACTN2, ALMS1, ALPK3, ANKRD1, APOA1, BAG3, BAG5, CASZ1, CHKB, CHRM2, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA4, FBXO32, FHL1, FHOD3, FKRP, FKTN, FLNC, FOXD4, GATA4, GATA6, GATAD1, GATC, GBE1, GET3, GLB1, GSK3B, HAND1, HCN4, HFE, HJV, ILK, JPH2, JUP, KLHL24, LAMA4, LAMP2, LDB3, LEMD2, LMNA, LMOD2, LRRC10, MLYCD, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL4, MYPN, NEBL, NEXN, NKX2-5, NRAP, OBSCN, PCCA, PCCB, PKP2, PLEKHM2, PLN, PPCS, PRDM16, PSEN1, PSEN2, QRSL1, RAF1, RBCK1, RBM20, RMND1, RPL3L, SCN5A, SDHA, SGCD, SLC22A5, SPEG, SYNE1, SYNE2, TAB2, TAFAZZIN, TBX20, TBX5, TCAP, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TTN, TTR, VCL, VEZF1, VPS13A

Miocardiopatia e alterações da condução cardíaca (Painel NGS de 284 genes – inclui análise de DNA mitocondrial)

ABCC6, ABCC9, ACADVL, ACTA1, ACTC1, ACTN2, ALMS1, ALPK3, ANKRD1, APOA1, BAG3, BAG5, CASZ1, CHKB, CHRM2, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DNAJC19, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA4, FBXO32, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXD4, GATA4, GATA6, GATAD1, GATC, GBE1, GET3, GLB1, GSK3B, HAND1, HCN4, HFE, HJV, ILK, JPH2, JUP, KLHL24, LAMA4, LAMP2, LDB3, LEMD2, LMNA, LMOD2, LRRC10, MIB1, MIPEP, MLYCD, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL4, MYPN, NEBL, NEXN, NKX2.5, NKX2-5, NNT, NONO, NRAP, OBSCN, PCCA, PCCB, PKP2, PLEKHM2, PLN, PPCS, PRDM16, PSEN1, PSEN2, QRSL1, RAF1, RBCK1, RBM20, RMND1, RPL3L, RYR2, SCN5A, SDHA, SGCD, SLC22A5, SPEG, SYNE1, SYNE2, TAB2, TAFAZZIN, TBX20, TBX5, TCAP, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TTN, TTR, VCL, VEZF1, VPS13A

Miocardiopatia dilatada e alterações da condução cardíaca (Painel NGS de 196 genes – inclui análise de DNA mitocondrial)

ABCC6, ABCC9, ACADVL, ACTA1, ACTC1, ACTN2, AKAP9, ALG10B, ALMS1, ALPK3, ANK2, ANKRD1, APOA1, BAG3, BAG5, CACNA1C, CACNB2, CALM1, CASQ2, CASZ1, CAV3, CAVIN4, CHKB, CHRM2, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA4, FBXO32, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXD4, GATA4, GATA6, GATAD1, GATC, GBE1, GET3, GLA, GLB1, GPD1L, GSK3B, HAMP, HAND1, HCN4, HFE, HJV, IDH2, ILK, JPH2, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, KLHL24, LAMA4, LAMP2, LDB3, LEMD2, LMNA, LMOD2, LRRC10, MIB1, MLYCD, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYL4, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NPPA, NRAP, OBSCN, PCCA, PCCB, PDLIM3, PKP2, PLEKHM2, PLN, PPCS, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, QRSL1, RAB3GAP2, RAF1, RBCK1, RBM20, RMND1, RPL3L, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SDHA, SGCD, SLC22A5, SLC40A1, SNTA1, SPEG, SYNE1, SYNE2, TAB2, TAFAZZIN, TBX20, TBX5, TCAP, TFR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRPM4, TTN, TTR, VCL, VEZF1, VPS13A

Miocardiopatia dilatada e não-compactação ventricular esquerda (NCVE) (Painel NGS de 165 genes – inclui análise de DNA mitocondrial)

ABCC6, ABCC9, ACADVL, ACTA1, ACTC1, ACTN2, ALMS1, ALPK3, ANKRD1, APOA1, BAG3, BAG5, CASZ1, CHKB, CHRM2, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DNAJC19, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA4, FBXO32, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXD4, GATA4, GATA6, GATAD1, GATC, GBE1, GET3, GLB1, GSK3B, HAND1, HCN4, HFE, HJV, ILK, JPH2, JUP, KLHL24, LAMA4, LAMP2, LDB3, LEMD2, LMNA, LMOD2, LRRC10, MIB1, MIPEP, MLYCD, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL4, MYPN, NEBL, NEXN, NKX2.5, NKX2-5, NNT, NONO, NRAP, OBSCN, PCCA, PCCB, PKP2, PLEKHM2, PLN, PPCS, PRDM16, PSEN1, PSEN2, QRSL1, RAF1, RBCK1, RBM20, RMND1, RPL3L, RYR2, SCN5A, SDHA, SGCD, SLC22A5, SPEG, SYNE1, SYNE2, TAB2, TAFAZZIN, TBX20, TBX5, TCAP, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TTN, TTR, VCL, VEZF1, VPS13A

Miocardiopatia hipertrófica (Painel NGS de 121 genes – inclui análise de DNA mitocondrial)

ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, ALPK3, ANKRD1, APOA1, BAG3, BRAF, CACNA1C, CALR3, CASQ2, CAV3, CBL, COA5, COA6, COQ2, COX15, CPT2, CRYAB, CSRP3, DES, ELAC2, EPG5, FBXL4, FHL1, FHOD3, FLNC, GAA, GLA, GSK3B, GYG1, HRAS, JPH2, KLF10, KLHL24, KRAS, LAMP2, LDB3, LZTR1, MAP2K1, MAP2K2, MAPK1, MIPEP, MRAS, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NDUFAF2, NEXN, NRAS, PDLIM3, PLN, PRKAG2, PTPN11, RAF1, RASA2, RIT1, RRAS2, RYR2, SLC25A4, SOS1, SOS2, SPRED2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTN, TTR, VCL

Morte Súbita (Painel NGS de 120 genes)

ABCC9, ACTC1, ACTN2, AKAP9, ALG10B, ALPK3, ANK2, ANKRD1, BAG3, BAG5, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV3, CDH2, CRYAB, CSRP3, CTNNA3, DES, DMD, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FBN1, FBN2, FGF12, FHL1, FHOD3, FKRP, FKTN, FLNC, GATAD1, GJA5, GLA, GNB2, GPD1L, HCN4, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, NKX2-5, NPPA, PKP2, PLN, PPA2, PPCS, PRDM16, PRKAG2, PSEN1, PSEN2, RAF1, RANGRF, RBM20, RPL3L, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SDHA, SEMA3A, SGCD, SLC25A4, SLC4A3, SLMAP, SNTA1, TAFAZZIN, TBX5, TCAP, TECRL, TGFB3, TGFBR2, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, VCL

Não-compactação ventricular esquerda – NCVE (Painel NGS de 49 genes)

ABCC9, ACTC1, ACTN2, ALPK3, BAG3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, FBXO32, FLNC, HCN4, JPH2, JUP, LAMP2, LDB3, LMNA, MIB1, MIPEP, MYBPC3, MYH6, MYH7, NEXN, NKX2.5, NNT, NONO, OBSCN, PKP2, PLEKHM2, PLN, PRDM16, RAF1, RBM20, RYR2, SCN5A, TAFAZZIN, TBX20, TBX5, TCAP, TMEM70, TNNI3, TNNT2, TPM1, TTN, VCL

Síndrome de Brugada (Painel NGS de 44 genes)

ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CASQ2, DPP6, DSG, DSP, FGF12, GPD1L, HCN4, HEY2, KCNAB2, KCNB2, KCND2, KCND3, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ16, KCNJ8, LRRC10, PKP2, PLN, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4A, SCN5A, SCNN1A, SEMA3A, SLMAP, TBX5, TKT, TRPM4, TTN, XIRP1, XIRP2

Síndrome de Ehlers-Danlos (Painel NGS de 44 genes)

ABCC6, ADAMTS2, ADAMTSL2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS, CHST14, CHST3, COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, GORAB, PLOD1, PRDM5, PYCR1, SLC39A13, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ZNF469

Síndrome de Ehlers-Danlos, Marfan, Loeys-Dietz e aneurisma da aorta (Painel NGS de 121 genes)

ABCC6, ABL1, ACTA2, ACTB, ACTG1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, ADAMTSL4, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, BMP2, BRAF, C1R, C1S, CBL, CBS, CCNK, CDC42, CHST14, CHST3, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A5, COL5A1, COL5A2, COL9A1, COL9A2, COLGALT1, DLG4, DSE, EFEMP2, ELN, ENPP1, EPHB4, FBLN5, FBN1, FBN2, FGD1, FKBP14, FLCN, FLNA, FOXE3, GATA5, GORAB, HCN4, HRAS, KAT6B, KRAS, LOX, LTBP1, LTBP2, LTBP4, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAT2A, MED12, MFAP5, MRAS, MYH11, MYLK, NF1, NF2, NOTCH1, NRAS, NSUN2, PLOD1, PLOD3, PPP1CB, PRDM5, PRKG1, PTPN11, PYCR1, RAF1, RASA1, RASA2, RIT1, ROBO4, RRAS2, SASH1, SHOC2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SMARCB1, SOS1, SOS2, SPRED1, STAMBP, SYNGAP1, TGFB2, TGFB3, TGFBR1, TGFBR2, THSD4, TNXB, UPF3B, VCAN, ZDHHC9, ZNF469

Síndrome de Marfan (Painel NGS de 50 genes)

ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTSL4, AEBP1, B3GAT3, BGN, CBS, CHST14, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, DLG4, DSE, EFEMP2, FBN1, FBN2, FKBP14, FLCN, FLNA, FOXE3, LOX, LTBP2, MAT2A, MED12, MYH11, MYLK, PLOD1, PRDM5, SKI, SLC2A10, SMAD2, SMAD3, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, UPF3B, VCAN, ZDHHC9, ZNF469

Síndrome de Marfan e aneurisma da aorta torácica (Painel NGS de 34 genes)

ACTA2, ADAMTSL4, BGN, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, FLNA, FOXE3, HCN4, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2

Síndrome de Noonan (Painel NGS de 38 genes)

ACTB, ACTG1, BMP2, BRAF, CBL, CCNK, CDC42, EPHB4, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, MRAS, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS2, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, SPRED2, STAMBP, SYNGAP1

Síndrome de QT curto (Painel NGS de 6 genes)

CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1, SLC4A3

Síndrome de QT longo (Painel NGS de 22 genes)

AKAP9, ALG10B, ANK2, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, SCN4B, SCN5A, SLC12A3, SNTA1, TECRL, TRDN

Síndrome de QT longo e QT curto (Painel NGS de 22 genes)

AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, SCN4B, SCN5A, SLC12A3, SNTA1, TECRL, TRDN

Taquicardia ventricular catecolaminérgica polimórfica (Painel NGS de 10 genes)

ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, LMNA, RYR2, TECRL, TRDN



A Genetyca-ICM by Atrys disponibiliza ainda abordagens mais alargadas para as diferentes especialidades que poderão ser úteis para doentes com quadros clínicos complexos: exoma clínico ou exoma em trio.


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