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

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


Cardiomiopatia hipertrófica (genes sarcoméricos) (8 genes) ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2, TPM1.


Cardiomiopatia hipertrófica (painel alargado) (68 genes) AARS2, ACTA1, ACTC1, ACTN2, ANKRD1, BAG3, CALR3, CASQ2, CAV3, COA5, CRYAB, CSRP3, DES, FHL1, FHOD3, FLNC, FOXRED1, FXN, GAA, GLA, GLB1, GUSB, HRAS, JPH2, KCNQ1, KLF10, KRAS, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MRPL3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEXN, NRAS, OBSCN, PDLIM3, PLN, PRKAG2, PTPN11, RAF1, RIT1, RYR2, SCO2, SHOC2, SLC25A3, SLC25A4, SOS1, TCAP, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TSFM, TTN, TTR, VCL.


Cardiomiopatia dilatada (painel básico) (32 genes) ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, DES, DSG2, DMD, DSP, EMD, EYA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PLN, PSEN1, PSEN2, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL.


Cardiomiopatia dilatada (painel alargado) (47 genes) ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, CTF1, DES, DMD, DSG2, DSP, EMD, EYA4, FHL2, FHOD3, FKTN, FLNC, GATAD1, 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.


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 (17 genes) CASQ2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LMNA, MIB1, PKP2, PLN, RYR2, SCN5A, TGFB3, TMEM43, TTN.


Cardiomiopatia e arritmia (198 genes) A2ML1, AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTN2, AGK, AGL, AGPAT2, AKAP9, ALMS1, ANK2, ANKRD1, ANO5, ATP5E, ATPAF2, BAG3, BRAF, BSCL2, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CAPN3, CASQ2, CAV3, CAVIN4, CHRM2, COA5, COA6, COQ2, COX15, COX6B1, CRYAB, CSRP3, CTF1, CTNNA3, DES, DLD, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EYA4, FAH, FGF12, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXD4, FOXRED1, FXN, GAA, GATA4, GATA6, GATAD1, GFM1, GJA1, GJA5, GLA, GLB1, GNPTAB, GPD1L, GUSB, HCN4, HRAS, ILK, JPH2, JUP, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, KLF10, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LIAS, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOT, MYOZ1, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NKX2-6, NNT, NRAS, OBSCN, PDHA1, PDLIM3, PHKA1, PITX2, PKP2, PLN, PMM2, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RASA2, RBM20, RIT1, RRAS, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SGCA, SGCD, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLMAP, SNTA1, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TAZ, TBX20, TBX5, TCAP, TGFB3, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, VCL, XK.


Cardiomiopatias (103 genes) AARS2, ABCC9, ACTA1, ACTC1, ACTN2, ANKRD1, BAG3, CALR3, CASQ2, CAV3, CAVIN4, CHRM2, COA5, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FHL2, FHOD3, FKTN, FLNC, FOXRED1, FXN, GAA, GATAD1, GLA, GLB1, GUSB, HRAS, ILK, JPH2, JUP, KCNQ1, KLF10, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MIB1, MRPL3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ1, MYOZ2, MYPN, NEBL, NEXN, NRAS, OBSCN, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, RIT1, 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.


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


Cardiomiopatia hipertrófica (painel básico) (25 genes) ACTC1, ACTN2, CSRP3, GLA, KRAS, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, NEXN, PLN, PRKAG2, PTPN11, RAF1, RIT1, SOS1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR.


Síndrome de Brugada (31 genes) ANK2, ANK3, ABCC9, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CAV3, CLASP2, DPP6, FGF12, GPD1L, HCN4, IRX5, KCND2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, PXDNL, RANGRF, SCN1B, SCN2B, SCN3B, SCN5A, SCN10A, SEMA3A, SLMAP, TRPM4.


Taquicardia ventricular polimórfica catecolaminérgica (8 genes) ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TRDN.


Arritmias cardíacas (189 genes) A2ML1, AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGPAT2, AKAP9, ALMS1, ANK2, ANKRD1, ANO5, ATP5E, ATPAF2, BAG3, BRAF, BSCL2, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CAPN3, CASQ2, CAV3, CAVIN4, CHRM2, COA5, COA6, COQ2, COX15, COX6B1, CRYAB, CSRP3, CTNNA3, DES, DLD, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EYA4, FAH, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXD4, FOXRED1, FXN, GAA, GATA4, GATA6, GATAD1, GFM1, GJA1, GJA5, GLA, GLB1, GNPTAB, GPD1L, GUSB, HCN4, HRAS, JPH2, JUP, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LIAS, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOM1, MYOT, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NKX2-6, NNT, NRAS, OBSCN, PDHA1, PHKA1, PITX2, PKP2, PLN, PMM2, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RASA2, RBM20, RIT1, RRAS, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SGCD, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLMAP, SNTA1, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TAZ, TBX20, TBX5, TCAP, TGFB3, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, VCL, XK.


Morte súbita sem cardiopatia estrutural (65 genes) ABCC9, ACTC1, AKAP9, ANK2, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CAVIN4, DES, DSC2, DSG2, DSP, EMD, FGF12, FHL2, FLNC, GAA, GJA5, GLA, GPD1L, HCN4, JUP, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, LAMP2, LMNA, NKX2- 5, PKP2, PLN, PRKAG2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLMAP, SNTA1, TBX5, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TRDN, TRPM4, TTR.


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.


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.


Doenças da aorta/tecido conjuntivo (60 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.


Hipertensão arterial pulmonar hereditária (11 genes) ACVRL1, BMPR1B, BMPR2, CAV1, CBLN2, EIF2AK4, ENG, FOXF1, KCNA5, KCNK3, SMAD9.


Hipertensão monogénica (27 genes) AOC1, ASIC3, 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.

Dermatoses pigmentares reticuladas (17 genes) ABCB6, ADAM10, ADAR, CTC1, DKC1, KRT14, KRT5, NHP2, NOP10, POFUT1, POGLUT1, POLA1, SASH1, TERC, TERT, TINF2, WRAP53.


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.


Doença de Galli-Galli (7 genes) ADAM10, ADAR, KRT14, KRT5, POFUT1, POGLUT1, PSENEN.


Epidermólise bolhosa (15 genes) COL17A1, COL7A1, DSP, EXPH5, ITGA6, ITGB4, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, PLEC1, TGM5.


Epidermólise bolhosa (painel alargado) (32 genes) ATP2C1, CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSG1, DSG4, DSP, DST, EXPH5, FERMT1, GRIP1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, PLEC1, SERPINB8, TGM5.


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


Queratodermia palmoplantar (25 genes) AAGAB, AQP5, CTSC, DSG1, DSP, ENPP1, GJB2, GJB4, GJB6, JUP, KRT1, KRT6A, KRT6B, KRT6C, KRT9, KRT14, KRT16, KRT17, LOR, MBTPS2, PKP1, SERPINB7, SLURP1, TRPV3, WNT10A.


Síndrome de Rothmund-Thomson (46 genes) ATM, BLM, BRCA2, BRIP1, CTC1, 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, RECQL4, RFWD3, RTEL1, SLX4, TERC, TERT, TINF2, UBE2T, USB1, WRAP53, WRN, XPA, XPC, XRCC2.

Doenças auto-inflamatórias (29 genes) ADA2 (=CECR1), AP3B1, BLOC1S6, CARD14, CD27, ELANE, IL1RN, IL36RN, ITK, LPIN2, LYST, MEFV, MVK, NLRC4, NLRP12, NLRP3, NOD2, PRF1, PSMB8, PSTPIP1, RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, TMEM173, TNFRSF1A, UNC13D, XIAP.


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

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.


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) CA5A, CPS1, NAGS, OTC.


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


Hiperglicémia não cetónica (2 genes) AMT, GLDC.


Doenças mitocondriais (genes nucleares) (373 genes) AARS2, AASS, ABAT, ABCB6, ABCB7, ABCD1, ABCD3, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACSL4, ADCK4, AFG3L2, AGK, AGXT, AIFM1, AK2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, AMACR, AMT, APOPT1, ATIC, ATP5A1, ATP5E, ATP7B, ATPAF2, ATXN2, AUH, BAX, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BOLA3, BRIP1, BTD, C10orf2, C12orf65, CA5A, CASP8, CAT, CHCHD10, CISD2, CLPB, CLPP, COA5, COA6, COASY, COMT, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, CPOX, CPS1, CPT1A, CPT1C, CPT2, CRBN, CYB5A, CYB5R3, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS2, DBT, DECR1, DGUOK, DHCR24, DHODH, DHTKD1, DIABLO, DLAT, DLD, DMGDH, DMPK, DNA2, DNAJC19, DNAJC3, DNM1L, EARS2, ECHS1, EHHADH, ELAC2, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FECH, FH, FKBP10, FOXRED1, FTH1, FXN, GARS, GATM, GCDH, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GLYCTK, GPI, GPT2, GPX1, GRHPR, GSR, GTPBP3, HADH, HADHA, HADHB, HARS2, HAX1, HCCS, HIBCH, HINT1, HK1, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD17B4, HSD3B2, HSPA9, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B, ISCA2, ISCU, IVD, KARS, KIF1B, KRT5, L2HGDH, LARS2, LIAS, LIPT1, LONP1, LRPPRC, LYRM4, LYRM7, MAOA, MAOB, MARS2, MCCC1, MCCC2, MCEE, MFN2, MGME1, MICU1, MIP, MLH1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS22, MSRB3, MTFMT, MTO1, MTPAP, MTRR, MUT, MUTYH, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NNT, NTHL1, NUBPL, OAT, OGDH, OGG1, OPA1, OPA3, OTC, OXCT1, P4HB, PAM16, PANK2, PARK7, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PET100, PEX11B, PHYH, PINK1, PKLR, PNPLA8, PNPO, PNPT1, POLG, POLG2, PPM1K, PPOX, PRODH, PTGS1, PTRF, PTRH2, PTS, PUS1, PYCR1, PYCR2, QDPR, RARS, RARS2, RDH11, RECQL4, RMND1, RNASEH1, RNASEL, RPIA, RPL35A, RPS14,RRM2B, SARDH, SARS2, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SECISBP2, SERAC1, SFXN4, SLC16A1, SLC19A3, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC37A4, SLC9A6, SNAP29, SOD1, SOD2, SPG7, SPR, SPTLC2, STAR, STOM, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TARS2, TCIRG1, TIMM44, TIMM8A, TK2, TMEM126A, TMEM70, TMLHE, TPI1, TPK1, TRMU, TRNT1, TSFM, TTC19, TUBB3, TUFM, TXNRD2, TYMP, UNG, UQCC2, UQCRB, UQCRC2, UQCRQ, VARS2, WDR81, WFS1, XPNPEP3, YARS2.


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


Obesidade (47 genes) ADRB2, ADRB3, AGRP, ALMS1, AQP7, ARL6, CARTPT, ENPP1, FFAR4, FTO, GHRL, DYRK1B, LEP, LEPR, 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.


Obesidade não sindromática (27 genes) ADRB2, ADRB3, AGRP, ALMS1, AQP7, ARL6, CARTPT, ENPP1, FFAR4, FTO, GHRL, DYRK1B, LEP, LEPR, 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.


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.

Painel de Farmacogenética personalizado 1 (27 genes) CYP1A2*1C, *1D, *1E, *1F, *1J, *1K, *1L, *1V, *1W; CYP2B6*4, *5, *6, *7, *9, *16, *18; CYP2C cluster G/A; CYP2C9*2, *3, *4, *5, *6, *8, *11; CYP2C19*2, *3, *4, *4B, *10, *17; CYP2D6*2A, *2, *3, *4, *4N, *4M, *5, *6, *6C, *7, *8, *9, *10, *11, *12, *13, *14A, *14B, *15, *17, *18, *19, *29, *31, *34, *35, *36, *39, *41, *42, *59, *63, *64, *68, *69, *70, *91, *109; CYP3A4*1B, *22; CYP3A5*3, *6, *7; CYP4F2*3; COMT Val158Met; DPYD*2A, Asp949Val, *13; DRD2 -241A>G; F2 20210G>A; F5 Leiden, GRIK4 c.83-10039T>C; HLA-A*31:01; HLA-B*15:02, HLA-B*57:01, HLA-B*58:01; HTR2A c.614-2211T>C; HTR2C c.-759C>T; IL28B (IFNL4) c.151-152G>A; MTHFR 677C>T, 1298A>C; NUDT15 Arg139Cys; OPRM1 Asn40Asp; SLC6A4 c.-1810A>G, -1791_-1749del43; SLCO1B1*5, *17, *21; TPMT*2, *3A, *3B, *3C, *4; UGT1A1*6, *28; VKORC1 c.442C>T, -1639G>A.

Colestase intra-hepática familiar (3 genes) ABCB11, ABCB4, ATP8B1.


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


Hemocromatose (7 genes) FTH1, FTL, HAMP, HFE, HJV (=HFE2), SLC40A1, TFR2.


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


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

Anemia de Blackfan-Diamond (20 genes) GATA1, RPL5, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL36, RPS7, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, TSR2.


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


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


Telangiectasia hemorrágica hereditária
(Doença de Osler-Weber-Rendu) (5 genes)
ACVRL1, ENG, GDF2, RASA1, SMAD4.


Trombastenia de Glanzmann (2 genes) ITGA2B, ITGB3.

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


Acidose tubular renal ( genes) .


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


Doença poliquística renal (painel alargado) (31 genes) ABCC8, ALG8, BICC1, BLK, CEL, DNAJB11,DZIP1L, GANAB, GCK, HNF1B, HNF4A, INS, INVS, KCNJ11, KLF11, LRP5, NEUROD1, NOTCH2, NPHP3, OFD1, PAX4, PDX1, PKD1, PKD2, PKHD1, PRKCSH, SEC63, TSC1, TSC2, UMOD, VHL.


Glicosúria renal familiar (2 genes) SLC2A2, SLC5A2.


Cistinúria (2 genes) SLC3A1, SLC7A9.


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


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


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


Síndrome de Liddle (2 genes) SCNN1B, SCNN1G.


Síndrome nefrótica (48 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 420-500, exão 8, NM_022489.3), ITGA3, ITGB4, LAMB2, LMNA, LMX1B, MAFB, MYH9, MYO1E, NEU1, NPHS1, NPHS2, NUP107, NUP93, NXF5, PAX2, PDSS2, PLCE1, PMM2, PTPRO, SCARB2, SMARCAL1, TRPC6, TTC21B, WDR73, WT1, ZMPSTE24.

Enxaqueca (10 genes) ATP1A2, ATP1A3, CACNA1A, KCNK18, NOTCH3, POLG, PRRT2, SCN1A, SLC1A3, SLC2A1.


Alzheimer familiar e Demência frontotemporal (15 genes) APOE, APP, CHMP2B, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2, SNCA, SNCB, SORL1, TARDBP, TREM2, VCP.


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


Atrofia muscular espinhal (31 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) CCM2, KRIT1, 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 (28 genes) ANO5, BVES, CAPN3, CAV3, DES, DNAJB6, DYSF, FKRP, FKTN, GMPPB, ISPD, HNRNPDL, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRAPPC11, TRIM32, TTN.


Doença de Charcot-Marie-Tooth (63 genes) AARS, AIFM1, ATL1, ATP7A, BSCL2, C12orf65, COX6A1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, ELP1, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HINT1, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, INF2 (excepto aminoácidos 420-500, exão 8, NM_022489.3), KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SH3TC2, SLC12A6, SPTLC1, SPTLC2, TRIM2, TRPV4, TTR, WNK1, YARS.


Doenças do tecido conjuntivo (47 genes) ACTA2, ADAMTS2, ADAMTSL4, ATP7A, B3GALT6, B4GALT7, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL5A3, COL6A1, COL6A2, COL6A3, DSE, EFEMP2, ELN, FBN1, FBN2, FKBP14, FLNA, GAA, HRAS, KCNJ8, KIF22, MED12, MYH11, MYLK, NOTCH1, PLOD1, PLOD3, PRKG1, PTPN11, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469.


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) ATP13A2, FBXO7, LRRK2, PARK7, PINK1, PRKN, SLC6A3, SNCA, TAF1, VPS35.


Encefalopatia epilética (49 genes) ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5, CNTNAP2, CPT2, FOLR1, FOXG1, GABRG2, GAMT, GCSH, GLDC, GRIN2A, GRIN2B, KCNA2, KCNJ10, KCNQ2, MAPK10, MECP2, MTHFR, NRXN1, PCDH19, PLCB1, PNKP, PNPO, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC19A3, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, TBCE, TCF4, TREX1, UBE3A, ZEB2.


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


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


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


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


Esclerose tuberosa (2 genes) TSC1, TSC2.


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


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, HNRNPA1, HNRNPA2B1, 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.


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


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


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


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.


Paraparésias espásticas (78 genes) ADAR, ALDH18A1, ALDH3A2, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2B4, B4GALNT1, BICD2, BSCL2, C12orf65, C19orf12, CAPN1, CCT5, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, DNM2, DSTYK, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FARS2, GAD1, GBA2, GJC2, GRID2, HSPD1, IBA57, KIF1A, KIF1C, KIF5A, KLC2, L1CAM, MAG, MARS, NIPA1, NT5C2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP1, REEP2, RTN2, SLC16A2, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, TECPR2, TFG, TTR, TUBB4A, UCHL1, USP8, VAMP1, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27.


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

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.


Oftalmoplegia externa progressiva (16 genes) DGUOK, DNA2, MGME1, MFN2, MPV17, OPA1, POLG, POLG2, RNASEH1, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TWNK, TYMP.


Retinopatia pigmentar (131 genes) ABCA4, ABHD12, ADGRA3, AGBL5, AIPL1, ARL2BP, ARL3, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C2orf71, C8orf37, CA4, CACNA1F, CC2D2A, CDH23, CDHR1, CEP290, CERKL, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CRX, CYP4V2, DHDDS, DHX38, EMC1, EYS, FAM161A, FLVCR1, FSCN2, GNPTG, GUCA1B, GUCY2D, HGSNAT, HK1, IDH3B, IFT140, IFT172, IMPDH1, IMPG2, INPP5E, INVS, IQCB1, KIAA1549, KIZ, KLHL7, LCA5, LRAT, MAK, MERTK, MFRP, MKKS, MVK, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, OFD1, PCDH15, PDE6A, PDE6B, PDE6G, PEX1, PEX2, PEX26, PEX7, PHYH, PITPNM3, PLA2G5, POMGNT1, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RD3, RDH11, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, SAG, SEMA4A, SLC7A14, SNRNP200, SPATA7, SPP2, TOPORS, TRIM32, TRNT1, TTC8, TTPA, TUB, TULP1, USH1C, USH2A, WDR19, WFS1, WHRN, ZNF408, ZNF513.


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

Cancro da mama/ovário 3,4 (2 genes) BRCA1, BRCA2.


Cancro da mama hereditário 4 (30 genes) ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, EPCAM, FANCC, FANCM, MEN1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, SLX4, STK11, TP53, XRCC2.


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


Cancro colorrectal (39 genes) APC, ATM, AURKA, AXIN2, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CCND1, CDH1, CHEK2, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH6, MSH3, MUTYH, NTHL1, ODC1, PIF1, PLA2G2A, POLD1, POLE, PMS2, PTEN, RBL1, RNF43, RPS20, SMAD4, SAMD7, STK11, TELO2, TGFBR2, TP53, XAF1.


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


Cancro da próstata hereditário 4 (20 genes) ATM, BRCA1, BRCA2, HOXB13, CHEK2, RAD51C, RAD51D, PALB2, ATR, NBN, GEN1, MLH1, MSH2, MSH6, PMS2, MRE11A, BRIP1, FAM175A, EPCAM, TP53.


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


Paragangliomas familiares (3 genes) SDHD, SDHB, SDHC.

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.


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

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


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 múltipla (10 genes) COL2A1, COL9A1, COL9A2, COL9A3, COMP, COMP, MATN3, MATN3, SLC26A2, UFSP2.


Displasias esqueléticas (105 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, 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 Bardet-Biedl (20 genes) ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, CEP290, IFT27, LZTFL1, MKKS, MKS1, PTHB1, SDCCAG8, TRIM32, TTC8, WDPCP.


Síndrome de Cornelia de Lange (5 genes) HDAC8, NIPBL, RAD21, SMC1A, SMC3.


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.


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


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

Ciliopatias (164 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, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYNC2H1, EVC, EVC2, EXOC8, FOXH1, GAS2L2, GAS8, GDF1, GLIS2, GUCY2D, 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, 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, TTC25, TTC8, TULP1, UMOD, USH1C, USH1G, USH2A, VHL, WDPCP, WDR19, WDR34, WDR35, WDR60, WHRN, XPNPEP3, ZIC3, ZMYND10, ZNF423.


Discinesias ciliares primárias (44 genes) ARMC4, C21orf59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYX1C1, GAS2L2, GAS8, HEATR2, HYDIN, INVS, LRRC6, MCIDAS, NME8, OFD1, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, TTC25, ZMYND10.


Fibrose pulmonar familiar (21 genes) ABCA3, AP3B1, CSF2RA, CSF2RB, DKC1, FOXF1, HPS1, HPS4, MUC5B, NKX2-1, RTEL1, PARN, SLC7A7, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, TINF2.


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

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