Painéis NGS

Serviços especializados de diagnóstico molecular

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Painéis NGS

Recentemente, novas tecnologias de sequenciação, como o método de Next Generation Sequencing (NGS), conquistaram um papel fundamental na pesquisa biomédica. Na GenoMed estamos constantemente a desenvolver os painéis de genes para NGS mais avançados e em conjunto com os clínicos, para que consigam os painéis de diagnóstico mais completos e precisos.

Tempo de Resposta

1-100 genes: 8 a 10 semanas
>100 genes: 8 a 12 semanas
exoma clínico: 8 a 12 semanas
exoma total: 3 a 4 meses

Tipo de Amostra

Sangue Total em EDTA (3 a 5 mL); Estável 48h à TA ou 72h refrigerado ou ADN (mais de 5µg com concentração superior a 20 ng/µL) ; Estável 48h à TA ou mais de 48h refrigerado

Arritmias cardíacas (140 genes): ACADVL, ACTA1, ACTN2, AGK, AGL, AGPAT2, AKAP9, ALMS1, ANK2, ANKRD1, ANO5, ATP5E, ATPAF2, BSCL2, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CAPN3, CAV3, CHRM2, COA5, COA6, COL7A1, COQ2, COX15, COX6B1, CRYAB, CSRP3, CTNNA3, DLD, DNAJC19, DOLK, DTNA, ELAC2, EYA4, FAH, FHL1, FHL2, FHOD3, FKRP, FKTN, FOXD4, FOXRED1, FXN, GAA, GATA4, GATA6, GATAD1, GFM1, GJA1, GJA5, GLB1, GNPTAB, GPD1L, GUSB, HCN4, HFE, HRAS, JPH2, KCND2, KCND3, KCNE3, KCNE5, KCNJ5, KCNK17, LAMA2, LAMA4, LDB3, LDLR, LIAS, LZTR1, MAP2K1, MAP2K2, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MURC, MYH6, MYOM1, MYOT, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NKX2-6, NNT, NRAS, OBSCN, PDHA1, PHKA1, PITX2, PMM2, PRDM16, PSEN1, PSEN2, RANGRF, RASA2, RIT1, RRAS, SCN10A, SCN2B, SCN3B, SCN4B, SCO2, SDHA, SGCD, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLMAP, SNTA1, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TBX20, TBX5, TCAP, TGFB3, TMEM70, TMPO, TNNI3K, TOR1AIP1, TRDN, TRIM63, TRPM4, TSFM, TXNRD2, VCL, XK.


Cardiomiopatia Dilatada (48 genes): ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, CTF1, DES, DMD, DSG2, DSP, EMD, EYA4, FHL2, FHOD3, FKTN, FLNC, GATAD1, HFE, ILK, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYOZ1, MYPN, NEXN, PKP2, PLN, PSEN1, PSEN2, RBM20, SCN5A, SGCA, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL.


Cardiomiopatia Hipertrófica (65 genes): AARS2, ACTA1, ACTC1, ACTN2, ANKRD1, BAG3, CALR3, CASQ2, CAV3, COA5, CRYAB, CSRP3, DES, FHL1, FLNC, FOXRED1, FXN, GAA, GLA, GLB1, GUSB, HRAS, JPH2, KCNQ1, KLF10, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MRPL3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEXN, NRAS, OBSCN, PDLIM3, PLN, PRKAG2, PTPN11, RAF1, RYR2, SCO2, SHOC2, SLC25A3, SLC25A4, SOS1, TCAP, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TSFM, TTN, TTR, VCLL3.


Cardiomiopatias (103 genes): AARS2, ABCC9, ACTA1, ACTC1, ACTN2, ANKRD1, BAG3, CALR3, CASQ2, CAV3, CHRM2, COA5, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DOLK, DSC2, DSG2, DSG3, DSP, DTNA, EMD, EYA4, FHL1, FHL2, FHOD3, FKTN, FLNC, FOXRED1, FXN, GAA, GATAD1, GLA, GLB1, GUSB, HFE, HRAS, ILK, JPH2, JUP, KCNQ1, KLF10, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MIB1, MRPL3, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ1, MYOZ2, MYPN, NEBL, NEXN, NRAS, OBSCN, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SCO2, SGCA, SGCD, SHOC2, SLC25A3, SLC25A4, SOS1, TAZ, TCAP, TGFB3, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRIM63, TSFM, TTN, TTR, VCL.


Hemorragia intraventricular no periparto (5 genes): COL4A1, COL4A2, TREX1, HTRA1, GLA.


Hipertensão Arterial Pulmonar Hereditária (11 genes): BMPR2, ACVRL1, CBLN2, EIF2AK4, KCNA5, KCNK3, CAV1, SMAD9, BMPR1B, ENG e FOXF1.


Hipertensão monogénica (27 genes): ABP1, ACCN3, CLCNKB, CUL3, CYP11B1, CYP11B2, CYP17A1, HSD11B2, KCNH2, KCNJ1, KLHL3, NOS3, NR3C2, PDE3A, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC12A1, SLC12A3, SCNN1B, SCNN1G, VHL, WNK1, WNK4.


Miocárdio não compactado (16 genes): ACTC1, ACTN2, DTNA, FHL2, FHOD3, ILK, LAMP2, LMNA, LDB3, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1.


Miocardiopatia arritmogénica do ventrículo direito (ARVC) (18 genes): CASQ2, CTNNA3, DES, DSC2, DSG2, DSG3, DSP, FLNC, JUP, LMNA, MIB1, PKP2, PLN, RYR2, SCN5A, TGFB3, TMEM43, TTN.


Morte súbita sem cardiopatia estrutural (66 genes): CACNA1C, CASQ2, DES, DSC2, DSG2, DSP, FLNC, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, PKP2, PLN, PRKAG2, RYR2, SCN1B, SCN5A, TMEM43, TNNC1, TNNI3, TNNT2, ABCC9, ACTC1, AKAP9, ANK2, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CAV3, EMD, FGF12, FHL2, GAA, GJA5, GLA, GPD1L, HCN4, HFE, KCND2, KCND3, KCNE3, KCNE5, KCNJ5, KCNK17, LAMP2, MURC, NKX2-5, RANGRF, SCN10A, SCN2B, SCN3B, SCN4B, SLMAP, SNTA1, TBX5, TNNI3K, TRDN, TRPM4, TTR.


Patologias da aorta (28 genes): ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, FLNA, GATA5, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2.


Síndrome de Brugada (31 genes): ANK2, ANK3, ABCC9, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CAV3, CLASP2, DPPX, FGF12, GPD1L, HCN4, IRX5, KCND2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, PXDNL, RANGRF, SCN1B, SCN2B, SCN3B, SCN5A, SCN10A, SEMA3A, SLMAP, TRPM4.


Síndrome de Ehlers-Danlos (20 genes): ADAMTS2, ATP7A, B3GALT6, B4GALT7, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, KIF22, PLOD1, SLC39A13, TNXB, ZNF469, PRDM5, SCN9A


Síndrome de Marfan e Marfan-like (9 genes): COL3A1, FBN1, FBN2, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2.


Síndrome do QT Longo (3 genes): KCNQ1, KCNH2, SCN5A.


Síndrome do QT Longo (15 genes): AKAP9, ANK2, CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1.


Taquicardia ventricular polimórfica catecolaminérgica (15 genes): ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TRDN.


Doenças da aorta/tecido conjuntivo (67 genes): 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, 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, ZNF469.

Displasias ectodérmicas (31 genes): ABCC9, BCS1L, CDH3, DLX3, DSP, EDA, EDA2R, EDAR, EDARADD, ERCC2, EVC, EVC2, GJB2, GJB6, HOXC13, IKBKG, IFT122, IKBKG, JUP, KCTD1, KRT74, KRT85, MSX1, NFKBIA, PORCN, RMRP, SHOC2, TP63, TRAF6, WDR35, WNT10A.


Esclerose tuberosa (2 genes): TSC1, TSC2.


Paquioníquia congénita (8 genes): AAGAB, GJB6, KRT16, KRT17, KRT6A, KRT6B, KRT6C, TRPV3.


Síndrome de Rothmund-Thomson (46 genes): RECQL4, ATM, BLM, BRCA2, BRIP1, DDB2, DKC1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FAM111B, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FERMT1, MAD2L2, NHP2, NOP10, PALB2, PARN, POLH, RAD51, RAD51C, RFWD3, RTEL1, SLX4, TC1, TERC, TERT, TINF2, UBE2T, USB1, WRAP53, WRN, XPA, XPC, XRCC2.

Síndrome de Noonan/Rasopatias (20 genes): A2ML1, BRAF, CBL, FGD1, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1.

Doenças neuromusculares (207 genes): ACAD9, ACADM, ACADVL, ACTA1, ADAMTS10, ADGRG6, AGL, AGRN, ALDOA, ANO5, ANTXR2, ASXL1, B3GALNT2, B4GAT1, BAG3, BIN1, CACNA1S, CAPN3, CAV3, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CNBP, CNTNAP1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRLF1, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM2, DYSF, ECEL1, EMD, ENO3, EPG5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, EXOSC3, FAM20C, FBN2, FGFR2, FGFR3, FHL1, FKBP10, FKBP14, FKRP, FKTN, FLNB, FLNC, GAA, GBA, GBE1, GFPT1, GLDN, GLE1, GMPPB, GNE, GYG1, GYS1, HADHA, HADHB, HSPB1, HSPB8, HSPG2, INPP5K, IRF6, ISCU, ISPD, ITGA7, KAT6B, KBTBD13, KLHL40, KLHL41, KLHL7, LAMA2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAP3K20, MATR3, MEGF10, MICU1, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH7, MYH8, MYO18B, MYOT, NALCN, NEB, ORAI1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PIEZO2, PLEC, PLOD1, PLOD2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PRG4, PRKAG2, PYGM, RAPSN, RBCK1, RIPK4, RRM2B, RYR1, SCARF2, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SKI, SLC18A3, SLC22A5, SLC25A4, SLC5A7, SMAD3, SMAD4, SPEG, SQSTM1, STAC3, STIM1, SUCLA2, SYNE1, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TIA1, TK2, TMEM5, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRIM32, TRPV4, TSEN54, TSFM, TTN, TYMP, UBA1, VCP, VIPAS39, VMA21, VPS33B, ZC4H2, ZMPSTE24.

Doença de Tangier (2 genes): ABCA1, LCAT.


Glicogenoses (30 genes): AGL, ALDOA, ALDOB, AMPD1, CPT2, ENO3, EPM2A, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, NHLRC1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC2A2, SLC37A4.


Hiperamoniémia (4 genes): CPS1, NAGS, OTC, CA5A.


Hipercolesterolemia familiar (11 genes): APOB, ABCG5, ABCG8, APOC2, APOC3, APOE, LDLR, LDLRAP1, LIPA, LPL, PCSK9.


Hiperglicémia não cetónica (2 genes): GLDC, AMT.


Hipomagnesémia (29 genes): BSND, CASR, CLDN16, CLDN19, CNNM1, CNNM2, CNNM4, EGF, EGFR, FXYD2, HNF1B, KCNA1, KCNJ10, MAGT1, MMGT1, NIPA2, SLC12A3, SLC41A2, SLC41A3, TRPM6, TRPM7, CASR, CLCNKB, HNF1B, KCNJ10, PCBD1, SARS2, SLC12A3, TRPM6


MODY (15 genes): ABCC8, APPL1, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, SLC16A1.


Obesidade não sindromática (27 genes): ADRB2, ADRB3, AGRP, AQP7, ARL6, CARTPT, ENPP1, FFAR4, FTO, GHRL, DYRK1B, LEP, LEPR, LMS1, MC3R, MC4R, MRAP2, NR0B2, PCSK1, POMC, UCP3, PPARG, SIM1, SLC6A14, UCP1, UCP2, UCP3.


Obesidade sindromática (20 genes): BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS9, CEP290, GNAS, MAGEL2, MKKS, MKS1, NTRK2, PHF6, SDCCAG8, SIM1, TRIM32, TTC8, VPS13B, WDPCP.


Obesidade (47 genes): ADRB2, ADRB3, AGRP, AQP7, ARL6, CARTPT, ENPP1, FFAR4, FTO, GHRL, DYRK1B, LEP, LEPR, LMS1, MC3R, MC4R, MRAP2, NR0B2, PCSK1, POMC, UCP3, PPARG, SIM1, SLC6A14, UCP1, UCP2, UCP3, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS9, CEP290, GNAS, MAGEL2, MKKS, MKS1, NTRK2, PHF6, SDCCAG8, SIM1, TRIM32, TTC8, VPS13B, WDPCP.


Paraganglioma e feocromocitoma (16 genes): EGLN1, EPAS1, FH, IDH1, KIF1B, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL.


Síndrome de Kallmann (29 genes): ANOS1, AXL, CCDC141, CHD7, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, GNRH1, GNRHR, HS6ST1, IL17RD, KISS1, KISS1R, NSMF, POLR3B, PROK2, PROKR2, SEMA3A, SEMA3E, SEMA7A, SOX10, SPRY4, SRA1, TAC3, TACR3, WDR11.


Estudo do exoma clínico – individual: 2742 genes associados a doenças mendelianas.


Estudo do exoma clínico – duo: 2742 genes associados a doenças mendelianas.


Estudo do exoma clínico – trio: 2742 genes associados a doenças mendelianas.


Estudo do exoma completo – individual: Toda a região codificante do genoma. Tempo de resposta: 3 a 4 meses.


Estudo do exoma completo – duo: Toda a região codificante do genoma. Tempo de resposta: 3 a 4 meses.


Estudo do exoma completo – trio: Toda a região codificante do genoma. Tempo de resposta: 3 a 4 meses.

Colestase Intra-hepática familiar (3 genes): ABCB11, ABCB4 e ATP8B1.


Colestase neonatal intra-hepática (54 genes): ABCB11, ABCB4, ACAD9, AKR1D1, ASAH1, ATP8B1, BAAT, BCS1L, CC2D2A, CLDN1, CYP27A1, CYP7A1, CYP7B1, DCDC2, DGUOK, GBA, GBE1, HSD3B7, INVS, JAG1, LIPA, MKS1, MPV17, NOTCH2, NPC1, NPC2, NPHP3, NR1H4, PKHD1, POLG, POLG2, RRM2B, SERPINA1, SLC25A13, TJP2, TRMU, VIPAS39, VPS33B, CFTR, PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, MYO5B.


Pancreatite hereditária (8 genes): CASR, CFTR, CLDN2, CPA1, CTRC, SPINK1, PRSS1, PRSS2.


Porfírias hereditárias (9 genes): ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, UROS e HFE.


Síndrome de Lynch (4 genes): MLH1, MSH2, MSH6, PMS2.


Anemia de Blackfan-Diamond (21 genes): RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26, GATA1, RPL15, RPL26, RPL27, RPL31, RPS7, RPS27, RPS28, RPS29, TSR2, RPL36, RPS15, RPS27A.


Anemia de Fanconi (3 genes): FANCA, FANCG, FANCC


Síndrome hemofagocítica (7 genes): PRF1, UNC13D, STX11, STXBP2, RAG1, RAG2, DCLRE1C

Acidose tubular renal (3 genes): ATP6V0A4, ATP6V1B1 e SLC4A1.


Acidose tubular renal (3 genes): ATP6V0A4, ATP6V1B1, SLC4A1.


Cistinúria (2 genes): SLC3A1, SLC7A9.


Doença poliquística renal (Painel alargado 31 genes): ABCC8, ALG8, BICC1, BLK, CCND1, CEL, DZIP1L, ANAB, GCK, HNF1B, HNF4A, INS, INVS, KCNJ11, KLF11, LRP5, NEUROD1, NOTCH2, NPHP3, OFD1, PAX4, PDX1, PKD1, PKD2, PKHD1, PRKCSH, SEC63, TSC1, TSC2, UMOD, VHL.


Doença poliquística renal (3 genes): PKD1, PKD2, PKHD1.


Glicosúria renal familiar (2 genes): SLC2A2, SLC5A2.


Nefrite intersticial autossómica dominante (4 genes): HNF1B, REN, UMOD, SEC61A1.


Glicosúria renal familiar (2 genes): SLC2A2, SLC5A2.


Nefronoftise (17 genes): NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8, TMEM67, TTC21B, WDR19, ZNF423, CEP164, ANKS6, IFT172.


Síndrome de Alport (4 genes): COL4A3, COL4A4, COL4A5, COL4A6


Síndrome de Bartter e síndrome de Gitelman (6 genes): SLC12A1, KCNJ1, CLCNKB, BSND, CLCNKA, SLC12A3


Síndrome nefrótica (49 genes): ACTN4, ADCK4, ALG1, ANLN, APOL1, ARHGAP24, ARHGDIA, CD151, CD2AP, COL4A3, COL4A4, COL4A5, COQ2, COQ6, CRB2, CUBN, DGKE, EMP2, EXT1, FAT1, GATA3, INF2 (excepto aminoácidos 418-510, exão 8), ITGA3, ITGB4, LAMB2, LMNA, LMX1B, MAFB, MTTL1, MYH9, MYO1E, NEU1, NPHS1, NPHS2, NUP107, NUP93, NXF5, PAX2, PDSS2, PLCE1, PMM2, PTPRO, SCARB2, SMARCAL1, TRPC6, TTC21B, WDR73, WT1, ZMPSTE24.


Via alterna do complemento/Síndrome hemolítico urémico (9 genes): CFH, CD46, CFI, C3, CFB, THBD, CFHR1, CFHR5, DGKE.

Alzheimer familiar e Demência frontotemporal (15 genes): APOE, APP, CHMP2B, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2, SNCA, SNCB, SORL1, TARDBP, TREM2 e VCP. Por uma limitação da metodologia, o C9ORF72 terá de ser requisitado à parte do painel de NGS.


Angiopatia amiloide familiar (27 genes): APP, CST3, ITM2B, APOE (alelo e4), GSN, TTR, PRNP, NOTCH3, HTR1A, COL4A1, COL4A2, TREX1, PSEN1, PSEN2, GRN, MAPT, CHMP2B, GLA, CTC1, TBK1, CHCHD10, SQSTM1, TARDBP, SNCA, SNCB, DCTN1, CSF1R.


Ataxias recessivas (17 genes): MRE11A, SIL1, AFG3L2, SPTBN2, PIK3R5, SETX, MTTP, ANO10, ADCK3, POLG, ATM, SYNE1, SYT14, TDP1, ZNF592, MTPAP e SACS.


Atrofia muscular espinhal (17 genes): AR, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, EXOSC8, FBXO38, GARS, HSPB1, HSPB8, HSPB3, IGHMBP2, PLEKHG5, RAX2, REEP1, SETX, SIGMAR1, SLC5A7, SMN1, TBCE, TRIP4, TRPV4, UBA1, VAPB, VRK1, WARS


Cavernomas cerebrais múltiplos (3 genes): KRIT1, CCM2, PDCD10


Distonias (81 genes): ADAR, ANO3, ATP13A2, ATP1A3, ATP7B, BTD, C19orf12, CACNA1B, COASY, COL4A1, CP, CTSF, DCAF17, DDC, DLAT, DRD2, ECHS1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FBXO7, FTL, GALC, GAMT, GATM, GCDH, GCH1, GLB1, GNAL, HEXA, HPRT1, KMT2B, LIAS, LRRK2, NPC1, NPC2, PANK2, PARK2, PARK7, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PINK1, PLA2G6, PLP1, PNKD, POLG, PRKRA, PRRT2, PTS, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC6A3, SLC6A8, SPR, SUCLA2, SYNJ1, TAF1, TH, THAP1, TIMM8A, TOR1A, TPK1, TREX1, TUBB4A, VPS13A, WDR45, XK


Distrofia muscular de cinturas (29 genes): MYOT, LMNA, CAV3, DNAJB6, DES, TNPO3, HNRPDL, CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TCAP, TRIM32, FKRP, TTN, POMT1, ANO5, FKTN, POMT2, POMGNT1, PLEC, DES, TRAPPC11, GMPPB, ISPD, LIMS2, BVES


Doença de Charcot-Marie-Tooth (43 genes): AARS, AIFM1, C12orf65, COX6A1, DHTKD1, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, TRIM2, TRPV4, YARS


Doenças neuromusculares (207 genes): ACAD9, ACADM, ACADVL, ACTA1, ADAMTS10, ADGRG6, AGL, AGRN, ALDOA, ANO5, ANTXR2, ASXL1, B3GALNT2, B4GAT1, BAG3, BIN1, CACNA1S, CAPN3, CAV3, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CNBP, CNTNAP1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRLF1, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM2, DYSF, ECEL1, EMD, ENO3, EPG5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, EXOSC3, FAM20C, FBN2, FGFR2, FGFR3, FHL1, FKBP10, FKBP14, FKRP, FKTN, FLNB, FLNC, GAA, GBA, GBE1, GFPT1, GLDN, GLE1, GMPPB, GNE, GYG1, GYS1, HADHA, HADHB, HSPB1, HSPB8, HSPG2, INPP5K, IRF6, ISCU, ISPD, ITGA7, KAT6B, KBTBD13, KLHL40, KLHL41, KLHL7, LAMA2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAP3K20, MATR3, MEGF10, MICU1, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH7, MYH8, MYO18B, MYOT, NALCN, NEB, ORAI1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PIEZO2, PLEC, PLOD1, PLOD2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PRG4, PRKAG2, PYGM, RAPSN, RBCK1, RIPK4, RRM2B, RYR1, SCARF2, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SKI, SLC18A3, SLC22A5, SLC25A4, SLC5A7, SMAD3, SMAD4, SPEG, SQSTM1, STAC3, STIM1, SUCLA2, SYNE1, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TIA1, TK2, TMEM5, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRIM32, TRPV4, TSEN54, TSFM, TTN, TYMP, UBA1, VCP, VIPAS39, VMA21, VPS33B, ZC4H2, ZMPSTE24.


Doença de Parkinson (10 genes): LRRK2, PRKN, SNCA, PINK1, VPS35, PARK7, ATP13A2, FBXO7, SLC6A3, TAF1


Enxaqueca (3 genes): ATP1A2, CACNA1A, SCN1A


Epilepsia noturna do lobo frontal (6 genes): CHRNA2, CHRNA4, CHRNB2, CRH, DEPDC5, KCNT1


Esclerose lateral amiotrófica juvenil (3 genes): ALS2, SETX, ERLIN2


Esclerose lateral amiotrófica (5 genes): SOD1, FUS, TARDBP, SETX, VCP


Neurodegeneração com acumulação cerebral de ferro (NBIA) (10 genes): PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, FTL, CP, DCAF17, COASY


Neuropatias (69 genes): AARS, ABHD12, AIFM1, ATL1, ATP7A, BSCL2, C10orf2, COX6A1, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, EXOSC8, FAM134B, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF2, SCN10A, SCN11A, SCN9A, SH3TC2, SLC12A6, SLC52A3, SLC5A7, SMN1, SPTLC1, SPTLC2, SYT2, TFG, TRPV4, TTR, VCP, WNK1, YARS


Paraplegia espástica hereditária (35 genes): ATL1, SPAST, NIPA1, KIAA0196, KIF5A, RTN2, HSPD1, BSCL2, REEP1, ZFYVE27, SLC33A1, CYP7B1, ZFYVE26, ERLIN2, DDHD1, KIF1A, FA2H, PNPLA6, C19orf12, GJC2, GBA2, AP4B1, AP5Z1, TECPR2, AP4M1, AP4E1, AP4S1, VPS37A, DDHD2, C12orf65, CYP2U1, GAD1, L1CAM, PLP1, SLC16A2


Síndrome de Fahr (4 genes): SLC20A2, PDGFRB, PDGFB, XPR1


Miopatias miofibrilares (8 genes): DES, CRYAB, MYOT, LDB3, FLCN, BAG3, FHL1, DNAJB6


Miopatias (156 genes): ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACTA1, ACTG2, ACVR1, AGL, AGRN, AMPD1, ANO5, ATP2A1, B4GAT1, BAG3, BIN1, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, CPT1B, CPT2, CRYAB, DAG1, DES, DNA2, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM3, DYSF, ENO3, ETFA, ETFB, ETFDH, FHL1, FKBP14, FKRP, FKTN, FLNC, GAA, GBE1, GFPT1, GNE, GOSR2, GYG1, GYS1, HACD1, HADH, HADHA, HADHB, HRAS, ISCU, ISPD, ITGA7, KBTBD13, KLHL40, KLHL41, KLHL9, KY, LAMA2, LAMP2, LARGE, LDB3, LDHA, LMNA, LMOD3, LPIN1, MAMLD1, MATR3, MEGF10, MICU1, MSTN, MTM1, MTMR14, MUSK, MYF6, MYH14, MYH2, MYH7, MYOT, NEB, OPA1, OPA3, ORAI1, PABPN1, PDHA1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PLEC, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMT1, POMT2, PRKAG2, PUS1, PYGM, RAPSN, RBCK1, RRM2B, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SLC16A1, SLC22A5, SLC25A20, SPEG, STAC3, STIM1, SUCLA2, TAZ, TCAP, TIA1, TK2, TNNT1, TPM2, TPM3, TRIM32, TTN, TWNK, TYMP, VCP, VMA21, YARS2, hnRNPA1, hnRNPA2B1.


Miotonias não-distróficas (11 genes): ATP2A1, CACNA1A, CACNA1S, CAV3, CLCN1, HINT1, HSPG2, KCNA1, KCNE3, KCNJ18, SCN4A


Cataratas congénitas (41 genes): AGK, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, EPHA2, EYA1, FAM126A, FOXE3, FYCO1, GALK1, GBA2, GCNT2, GJA3, GJA8, HSF4, LIM2, MAF, MIP, MIR184, NHS, P3H2, PAX6, PITX3, PXDN, SIL1, SLC16A12, SLC33A1, TDRD7, VIM


Cancro colorectal (19 genes): APC, BMPR1A, CDH1, CHEK2 (excepto exões 13 e 15, NM_007194.3), EPCAM, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53


Cancro da mama hereditário (19 genes): ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2 (excepto exões 13 e 15, NM_007194.3), EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53


Cancro do pâncreas (18 genes): APC, ATM, BMPR1A, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS1, PMS2, PRSS1, SMAD4, SPINK1, STK11, TP53


Cancro do pulmão NGS I (5 genes): EGFR, ALK, ROS1, BRAF e KRAS. 10 a 15 dias úteis; Blocos de parafina/Citobloco; Secções: 6×20 μm


Cancro do pulmão NGS II (8 genes): EGFR, ALK, ROS1, BRAF, KRAS, HER2, MET e RET. 10 a 15 dias úteis; Blocos de parafina/Citobloco; Secções: 6×20 μm


Cancro do pulmão NGS III (13 genes): EGFR, ALK, ROS1, BRAF, KRAS, HER2, MET, RET, DDR2, PIK3CA, PTEN, NRAS e AKT1. 10 a 15 dias úteis; Blocos de parafina/Citobloco; Secções: 6×20 μm

Surdez sindrómica e não-sindrómica (128 genes): ABHD12, ACTG1, ALMS1, ANKH, ATP6V1B1, BSND, CABP2, CACNA1D, CCDC50, CD151, CDH23, CDKN1C, CEACAM16, CHD7, CHSY1, CIB2, CLDN14, CLIC5, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DFNA5, DFNB59, DIABLO, DIAPH1, DIAPH3, DLX5, DSPP, EDN3, EDNRB, ESPN, ESRRB, EYA1, EYA4, FGF3, FOXI1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPR98, GPSM2, GRHL2, GRXCR1, HGF, HOXB1, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, LHFPL5, LOXHD1, LRP2, LRTOMT, MANBA, MARVELD2, MIR96, MITF, MSRB3, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, NDP, NLRP3, OTOA, OTOF, OTOG, OTOGL, PAX3, PCDH15, PDZD7, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SEMA3E, SERPINB6, SIX1, SIX5, SLC12A1, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLITRK6, SMPX, SNAI2, SOX10, STRC, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMC2, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, TYR, USH1C, USH1G, USH2A, WFS1, WHRN


Artrogripose distal (9 genes): MYBPC1, MYH3, TPM2, TNNI2, TNNT3, PIEZO2, ECEL1, MYH8, FBN2


Craniossinostoses (42 genes): ALPL, ALX3, ALX4, BMP4, EDN3, EDNRB, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, FLNB, FREM1, GDF5, GLI3, IFT122, IFT140, IL11RA, IMPAD1, IRX5, MASP1, MEGF8, MITF, MSX2, NOG, PAX3, POR, RAB23, RECQL4, RET, SCARF2, SKI, SOX10, TCF12, TGFBR1, TGFBR2, TMCO1, TTR, TWIST1, WDR19, WDR35


Displasia epifisária (10 genes): COMP, MATN3, COL9A1, COL9A2, COL9A3, SLC26A2, COL2A1, UFSP2, COMP, MATN3


Displasias esqueléticas (107 genes): ACP5, ADAMTS10, ADAMTSL2, AGPS, ALPL, ANKH, ARSE, B3GALT6, BMP1, BMPR1B, CA2, CANT1, CDC6, CDKN1C, CDT1, CHST3, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, CSPP1, CTSK, CUL7, CYP27B1, DHCR24, DLL3, DVL1, DYM, DYNC2H1, EBP, EIF2AK3, ENPP1, ESCO2, EVC, EVC2, FAM20C, FGF23, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GDF5, GNPAT, HSPG2, IFT140, IFT172, IFT80, IHH, IKBKG, KAT6B, LBR, LIFR, LMX1B, LRP5, LTBP2, MATN3, MMP9, NEK1, NPR2, OBSL1, ORC1, ORC4, ORC6, P3H1, PAPSS2, PCNT, PEX7, PHEX, PLOD2, PPIB, PTH1R, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SERPINF1, SERPINH1, SHOX, SLC26A2, SLC34A3, SLC39A13, SMAD4, SMARCAL1, SOX9, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TRAPPC2, TRPV4, TTC21B, VDR, WDR19, WDR35, WISP3, WNT5A


Síndrome de Klippel-Feil (3 genes): MEOX1, GDF6, GDF


Síndrome de Treacher Collins (3 genes): TCOF1, POLR1C, POLR1D

Ciliopatias (166 genes): ACVR2B, ADGRV1, AHI1, AIPL1, ALMS1, ANKS6, ARL13B, ARL6, ARMC4, ATXN10, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C21orf59, C2orf71, C5orf42, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CDH23, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFAP53, CFTR, CLRN1, CRB1, CRELD1, CRX, CSPP1, DCDC2, DFNB31, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYNC2H1, DYX1C1, EVC, EVC2, EXOC8, FOXH1, GAS8, GDF1, GLIS2, GPR98, GUCY2D, HEATR2, HYDIN, HYLS1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IMPDH1, INPP5E, INVS, IQCB1, KCNJ13, KIAA0556, KIAA0586, KIF14, KIF7, LCA5, LEFTY2, LRAT, LRRC6, LZTFL1, MCIDAS, MKKS, MKS1, MRE11, MYO7A, NEK1, NEK8, NKX2-5, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PCDH15, PDE6D, PIEZO2, PIH1D3, PKD1, PKD2, PKHD1, RD3, RDH12, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SPAG1, SPATA7, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRIM32, TSC1, TSC2, TTC21B, TTC8, TULP1, UMOD, USH1C, USH1G, USH2A, VHL, WDPCP, WDR19, WDR34, WDR35, WDR60, WHRN, XPNPEP3, ZIC3, ZMYND10, ZNF423


Discinésias ciliares primárias (40 genes): ARMC4, C21orf59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFTR, DNAAF1, DNAAF2, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYX1C1, GAS8, HEATR2, HYDIN, INVS, LRRC6, MCIDAS, NME8, OFD1, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10


Miastenia e insuficiência respiratória (2 genes): SLC52A2, SLC52A3


Síndrome de Liddle (2 genes): SCNN1B, SCNN1G


Síndrome de Usher e síndrome de Almström (14 genes): MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, ADGRV1, WHRN, USH2A, CLRN1, TIMM8A, PDZD7, HARS, ALMS1


Síndrome de Usher (13 genes): MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, ADGRV1, WHRN, USH2A, CLRN1, TIMM8A, PDZD7, HARS

Está nos nossos Genes

Testemunhos de Utilizadores

  • A GenoMed, Diagnóstico de Medicina Molecular tem desenvolvido uma colaboração fundamental no âmbito do Centro de Referência de Doenças Hereditárias do Metabolismo(DHM)-Pólo dos Adultos, no sentido de promover a transferência de conhecimento científico na área da medicina molecular para a prática clínica. A análise do exoma clínico através da sequenciação por NGS representa uma mais valia no estudo e diagnóstico das DHM.
    Anabela Oliveira Directora do Serviço de Urgência Central do HSM
  • Um laboratório eficaz, orientado para a modernização e permanente actualização, que alia a competência à capacidade de diálogo entre o laboratório e a clínica; mais do que um laboratório, uma interface eficaz entre a genética e a clínica, facilitando e aproximando dois vectores da medicina.
    Sofia Jorge Nefrologista, HSM
  • Como investigador tenho encontrado na GenoMed a colaboração pronta e eficaz, como clínico a GenoMed responde com rapidez e precisão às minhas solicitações, mas sempre um bom parceiro.
    Mamede de Carvalho Professor Catedrático - Director do Instituto de Fisiologia - Group Leader no iMM
  • A importância do testes genéticos no diagnóstico da doenças neurológicas não tem parado de crescer. Das doenças neuromusculares às do movimento, passando pela epilepsia e pelas doenças vasculares raras, os testes genéticos tornaram-se um elemento fundamental do diagnóstico e da compreensão da expressão clínica das doenças do Sistema Nervoso Central e Periférico.
    José Ferro Director do Serviço de Neurologia do HSM - Group Leader no iMM