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

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


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.


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


Cardiomiopatia e arritmia (197 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, DSG3, 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 (104 genes): AARS2, ABCC9, ACTA1, ACTC1, ACTN2, ANKRD1, BAG3, CALR3, CASQ2, CAV3, CAVIN4, 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, 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.


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


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 (190 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, DSG3, 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.

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


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.


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


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.


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 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.


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 (27 genes 111 alelos): 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 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.


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


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.

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, FANCG, FANCC.


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


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


Trombastenia de Glanzmann (2 genes): ITGA2B, ITGB3.

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


Cistinúria (2 genes): SLC3A1, SLC7A9.


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


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.


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


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


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 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.

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 (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): 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 (28 genes): ANO5, BVES, CAPN3, CAV3, DES, DNAJB6, DYSF, FKRP, FKTN, GMPPB, ISPD, HNRPDL, 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): LRRK2, PRKN, SNCA, PINK1, VPS35, PARK7, ATP13A2, FBXO7, SLC6A3, TAF1


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.


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


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


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


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


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, 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.


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


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): DES, CRYAB, MYOT, LDB3, FLCN, BAG3, FHL1, DNAJB6


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.


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): SLC20A2, PDGFRB, PDGFB, 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 (2 genes): BRCA1, BRCA2


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


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


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 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 (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): 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 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 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


Discinésias 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