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.


  • Aortopatias (Painel NGS de 63 genes)
  • Arritmia (Painel NGS de 219 genes)
  • Displasia arritmogénica ventricular direita (Painel NGS de 29 genes)
  • Miocardiopatia dilatada (Painel NGS de 128 genes)
  • Miocardiopatia dilatada e alterações na condução cardíaca (Painel NGS de 147 genes)
  • Miocardiopatia hipertrófica (Painel NGS de 116 genes)
  • Miocardiopatias (Painel NGS de 196 genes)
  • Morte súbita (Painel NGS de 72 genes)
  • Não-compactação ventricular esquerda (Painel NGS de 42 genes)
  • Síndrome de Brugada (Painel NGS de 42 genes)
  • Síndrome de Ehlers-Danlos (Painel NGS de 26 genes)
  • Síndrome de Ehlers-Danlos, Marfan, Loeys-Dietz e aneurisma da aorta (Painel NGS de 79 genes)
  • Síndrome de Marfan e aneurisma da aorta torácica (Painel NGS de 34 genes)
  • Síndrome de QT curto (Painel NGS de 9 genes)
  • Síndrome de QT longo (Painel NGS de 21 genes)
Aortopatias (Painel NGS de 63 genes)

ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, ATP7A, B3GALT6, B3GLCT, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL9A1, COL9A2, DSE, EFEMP2, ELN, FBN1, FBN2, FKBP14, FLCN, FLNA, FOXE3, GAA, HRAS, KCNJ8, LOX, LTBP2, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, PTPN11, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469

Arritmia (Painel NGS de 219 genes)

A2ML1, AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGPAT2, AKAP9, ALMS1, ANK2, ANKRD1, ANO5, ATP5F1E, ATPAF2, BAG3, BRAF, BSCL2, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CAPN3, CASQ2, CAV3, CAVIN4, CDH2, CHRM2, COA5, COA6, COQ2, COX15, COX6B1, CPT1A, CRYAB, CSRP3, CTNNA3, DBH, DEPDC5, DES, DLD, DMD, DNAJC19, DOLK, DPP6, DSC2, DSG2, DSG3, DSP, DTNA, ELAC2, EMD, EYA4, FAH, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXRED1, FXN, GAA, GATA4, GATA6, GATAD1, GFM1, GJA1, GJA5, GLA, GLB1, GNPTAB, GPD1L, GUSB, GYG1, HADHA, HCN4, HRAS, JPH2, JUP, KCNA1, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNK3, KCNQ1, KCNQ2, KCNQ3, KCNT1, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LEMD2, LIAS, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYOM1, MYOT, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NKX2-6, NNT, NOS1AP, NPPA, NRAS, NUP155, OBSCN, PCDH19, PDHA1, PDLIM3, PHKA1, PITX2, PKP2, PLN, PMM2, PPA2, PRDM16, PRKAG2, PRRT2, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RASA2, RBM20, RIT1, RRAS, RYR2, SALL4, SCN10A, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN8A, SCN9A, SCO2, SDHA, SEMA3A, SGCD, SHOC2, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLMAP, SNTA1, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TAZ, TBX20, TBX5, TCAP, TECRL, TGFB3, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, VCL, XK

Displasia arritmogénica ventricular direita (Painel NGS de 29 genes)

ACTN2, BAG3, CDH2, CTNNA3, DES, DSC2, DSG2, DSP, EMD, FLNC, JUP, LDB3, LEMD2, LMNA, MYH7, NKX2-5, PKP2, PLN, PPA2, PRKAG2, RBM20, RYR2, SCN5A, TGFB3, TMEM43, TNNI3, TNNT2, TRPM4, TTN

Miocardiopatia dilatada (Painel NGS de 128 genes)

ABCC6, ABCC9, ACADVL, ACTA1, ACTC1, ACTN2, ALMS1, ALPK3, ANKRD1, APOA1, BAG3, CASQ2, CASZ1, CAV3, CAVIN4, CHRM2, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA4, FBXO32, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXD4, GATA4, GATA6, GATAD1, GATC, GBE1, GLA, GLB1, GSK3B, HAMP, HAND1, HCN4, HFE, HJV, IDH2, ILK, JPH2, JUP, KLHL24, LAMA4, LAMP2, LDB3, LEMD2, LMNA, LMOD2, LRRC10, MIB1, MLYCD, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYL4, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NPPA, NRAP, PCCA, PCCB, PDLIM3, PKP2, PLEKHM2, PLN, PPCS, PRDM16, PRKAG2, PTPN11, QRSL1, RAB3GAP2, RAF1, RBCK1, RBM20, RMND1, RYR2, SCN5A, SDHA, SGCD, SLC22A5, SLC40A1, SPEG, TAB2, TAZ, TBX20, TBX5, TCAP, TFR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TTN, TTR, TXNRD2, VCL, VPS13A

Miocardiopatia dilatada e alterações na condução cardíaca (Painel NGS de 147 genes)

ABCC6, ABCC9, ACADVL, ACTA1, ACTC1, ACTN2, AKAP9, ALG10B, ALMS1, ALPK3, ANK2, ANKRD1, APOA1, BAG3, CACNA1C, CACNB2, CALM1, CASQ2, CASZ1, CAV3, CAVIN4, CHRM2, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA4, FBXO32, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXD4, GATA4, GATA6, GATAD1, GATC, GBE1, 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, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYL4, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NPPA, NRAP, PCCA, PCCB, PDLIM3, PKP2, PLEKHM2, PLN, PPCS, PRDM16, PRKAG2, PTPN11, QRSL1, RAB3GAP2, RAF1, RBCK1, RBM20, RMND1, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SDHA, SGCD, SLC22A5, SLC40A1, SNTA1, SPEG, TAB2, TBX20, TBX5, TCAP, TFR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL, VPS13A

Miocardiopatia hipertrófica (Painel NGS de 116 genes)

ABCC6, ABCC9, ACADVL, ACTA1, ACTC1, ACTN2, ALMS1, ALPK3, ANKRD1, APOA1, BAG3, CASQ2, CASZ1, CAV3, CAVIN4, CHRM2, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA4, FBXO32, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXD4, GATA4, GATA6, GATAD1, GATC, GBE1, GLA, GLB1, GSK3B, HAMP, HAND1, HCN4, HFE, HJV, IDH2, ILK, JPH2, JUP, KLHL24, LAMA4, LAMP2, LDB3, LEMD2, LMNA, LMOD2, LRRC10, MIB1, MLYCD, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYL4, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NPPA, NRAP, PCCA, PCCB, PDLIM3, PKP2, PLEKHM2, PLN, PPCS, PRDM16, PRKAG2, PTPN11, QRSL1, RAB3GAP2, RAF1, RBCK1, RBM20, RMND1, RYR2, SCN5A, SDHA, SGCD, SLC22A5, SLC40A1, SPEG, TAB2, TAZ, TBX20, TBX5, TCAP, TFR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TTN, TTR, TXNRD2, VCL, VPS13A

Miocardiopatias (Painel NGS de 196 genes)

A2ML1, AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AKAP9, ALG10B, ALMS1, ALPK3, ANK2, ANKRD1, APOA1, ATP5F1E, BAG3, BRAF, CACNA1C, CACNB2, CALM1, CALR3, CASQ2, CASZ1, CAV3, CAVIN4, CBL, CDH2, CHRM2, COA5, COX15, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DOLK, DPM3, DSC2, DSG2, 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, GLA, GLB1, GPD1L, GSK3B, GUSB, HAMP, HAND1, HCN4, HFE, HJV, HRAS, IDH2, ILK, JPH2, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, KLF10, KLHL24, KRAS, LAMA4, LAMP2, LDB3, LEMD2, LMNA, LMOD2, LRRC10, MAP2K1, MAP2K2, MIB1, MIPEP, MLYCD, MRPL3, MTO1, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, NDUFAF2, NEBL, NEXN, NF1, NKX2-5, NPPA, NRAP, NRAS, OBSCN, PCCA, PCCB, PDLIM3, PKP2, PLEKHM2, PLN, PPA2, PPCS, PRDM16, PRKAG2, PTPN11, QRSL1, RAB3GAP2, RAF1, RASA1, RBCK1, RBM20, RIT1, RMND1, RRAS, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SGCD, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLC40A1, SNTA1, SOS1, SOS2, SPEG, SPRED1, TAB2, TAZ, TBX20, TBX5, TCAP, TFR2, TGFB3, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, VCL, VPS13A

Morte súbita (Painel NGS de 72 genes)

AKAP9, ANK2, CACNA1C, CACNB2, CALR3, CASQ2, CAV3, CSRP3, CTF1, DES, DSC2, DSG2, DSP, DTNA, EYA4, FBN1, FBN2, FKTN, GJA5, GLRA1, GPD1L, JPH2, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, LAMP2, LDB3, LMNA, LRP6, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, NPPA, PHOX2B, PKP2, PLN, PPA2, PRKAG2, PSEN1, PSEN2, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SGCD, SLC25A4, SNTA1, TAFAZZIN, TCAP, TGFB3, TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TSPYL1, TTN, VCL

Não-compactação ventricular esquerda (Painel NGS de 42 genes)

ABCC9, ACTC1, ACTN2, BAG3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, FBXO32, FLNC, HCN4, JPH2, JUP, LAMP2, LDB3, LMNA, MIB1, MIPEP, MYBPC3, MYH6, MYH7, NEXN, PKP2, PLEKHM2, PLN, PRDM16, RAF1, RBM20, RYR2, SCN5A, TAZ, TCAP, TNNI3, TNNT2, TPM1, TTN, VCL, YWHAE

Síndrome de Brugada (Painel NGS de 42 genes)

ABCC9, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CAV3, DPP6, FGF12, GPD1L, HCN4, IRX5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, PKP2, PXDNL, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, SNTA1, TRDN, TRPM4

Síndrome de Ehlers-Danlos (Painel NGS de 26 genes)

ABCC6, ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, EFEMP2, FBLN5, FKBP14, PLOD1, PRDM5, PYCR1, SLC39A13, TNXB, ZNF469

Síndrome de Ehlers-Danlos, Marfan, Loeys-Dietz e aneurisma da aorta (Painel NGS de 79 genes)

ABCC6, ABL1, ACTA2, ACVR1, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP7A, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COX7B, DCC, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FOXE3, GGCX, GORAB, HCN4, LOX, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PIEZO2, PLOD1, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, ROBO3, ROBO4, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, 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 QT curto (Painel NGS de 9 genes)

CACNA1C, CACN2B, KCNH2, KCNJ2, KCNQ1, SLC4A3, SLC22A5, CACNA2D1, SCN5A

Síndrome de QT longo (Painel NGS de 21 genes)

AKAP9, ALG10B, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, SCN4B, SCN5A, SNTA1, TECRL, TRDN, TRPM4



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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