Foram encontrados 25 exames.
Doença(s) Gene / Região Código do Exame TUSS Valor / Prazo  
Distúrbios de neurodesenvolvimento: sequenciamento - 861 genes
AAAS, AARS, AASS, ABCC9, ABCD1, ABCD4, ABHD5, ACAD9, ACADM, ACADS, ACO2, ACOX1, ACSL4, ACTB, ACTG1, ACY1, ADAR, ADGRG1 (GPR56), ADK, ADNP, ADSL, AFF2, AFF4, AFG3L2, AGA, AGPS, AHDC1, AHI1, AIFM1, AIMP1, AKT3, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG3, ALG6, ALG8, ALMS1, AMER1, AMPD2, AMT, ANKH, ANKRD11, AP1S1, AP1S2, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APOPT1, ARFGEF2, ARG1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARSA, ARSB, ARSE, ARV1, ARX, ASAH1, ASH1L, ASL, ASPA, ASPM, ASS1, ASXL1, ASXL3, ATAD3A, ATIC, ATL1, ATM, ATP13A2, ATP1A1, ATP6AP2, ATP6V0A2, ATP6V1B2, ATP7A, ATR, ATRX, AUH, AUTS2, B3GALNT2, B3GLCT (B3GALTL), B4GALNT1, B4GALT7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCOR, BCS1L, BLM, BMP4, BOLA3, BRAF, BRAT1, BRF1, BRWD3, BSCL2, BTD, BUB1B, C12orf4, C12orf57, C12orf65, C5orf42, CA2, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1G, CAMTA1, CASK, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC22, CCDC88C, CCND2, CDC42, CDC6, CDH15, CDK5RAP2, CDKL5, CDON, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP57, CEP83, CHAMP1, CHD2, CHD4, CHD7, CHD8, CHMP1A, CIC, CKAP2L, CLCN4, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CNKSR2, CNNM2, CNOT3, CNTNAP2, COASY, COG1, COG4, COG5, COG7, COG8, COL4A1, COL4A2, COL4A3BP, COLEC11, COQ4, COQ8A (ADCK3), COX10, COX15, COX6B1, CPS1, CRADD, CRB2, CREBBP, CSPP1, CSTB, CTC1, CTCF, CTDP1, CTNNB1, CTSA, CTSD, CUL4B, CUX2, CYB5R3, CYC1, CYP2U1, D2HGDH, DAG1, DARS, DARS2, DBT, DCAF17, DCHS1, DCX, DDC, DDHD2, DDOST, DDX11, DDX3X, DEAF1, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHTKD1, DIAPH1, DIS3L2, DKC1, DLD, DLG3, DMD, DNAJC19, DNM1, DNMT3A, DNMT3B, DOCK7, DOCK8, DOLK, DPAGT1, DPM1, DPP6, DPYD, DYM, DYNC1H1, DYRK1A, EBP, EEF1A2, EFTUD2, EHMT1, EIF2AK3, EIF2S3, EIF4A3, ELAC2, ELOVL4, ELP2, EML1, EMX2, EP300, EPG5, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC6L2, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXTL3, EZH2, FAM111A, FAM126A, FAM20C, FAR1, FAT4, FBXL4, FBXO11, FGD1, FH, FIG4, FKRP, FKTN, FLNA, FLVCR1, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FOXRED1, FTCD, FTSJ1, FUCA1, FUT8, GABRA1, GABRB3, GABRG2, GALC, GALE, GALT, GAMT, GATAD2B, GATM, GCDH, GCH1, GDI1, GFAP, GFER, GFM1, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLIS3, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAO1, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GPC3, GPSM2, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GTF2H5, GTPBP3, GUSB, HACE1, HADH, HADHA, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HERC1, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIVEP2, HLCS, HMGCL, HNRNPU, HOXA1, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HTRA2, HUWE1, HYLS1, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT172, IGF1, IGF1R, IKBKG, IL1RAPL1, INPP5E (PMPCA), INPP5K, IQSEC2, IRX5, ISPD, ITPR1, IVD, JAM3, KANSL1, KAT6A, KAT6B, KCNA2, KCNB1, KCNC1, KCNC3, KCNH1, KCNJ10, KCNJ11, KCNJ6, KCNK9, KCNQ2, KCNQ5, KCNT1, KCTD7, KDM1A, KDM5B, KDM5C, KDM6A, KIAA1109, KIF11, KIF1A, KIF1BP (KIAA1279), KIF5A, KIF5C, KIF7, KMT2A, KMT2C, KMT2D, KNL1 (CASC5), KPTN, KRAS, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1 (LARGE), LARP7, LGI4, LIG4, LINS1 (LINS), LONP1, LRP2, LRPPRC, MAB21L2, MAF, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MASP1, MAT1A, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCOLN1, MCPH1, MDH2, MECP2, MED12, MED13L, MED17, MEF2C, MFF, MFSD8, MGAT2, MGP, MICU1, MID1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPLKIP, MRPS22, MSMO1, MTHFR, MTOR, MTR, MTRR, MUT, MVK, MYCN, MYO5A, MYT1L, NAA10, NAA15, NAGA, NAGLU, NALCN, NDE1, NDP, NDST1, NDUFA1, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NEXMIF (KIAA2022), NF1, NFIA, NFIX, NFU1, NGLY1, NHS, NIPBL, NKX2-1, NLGN3, NPC1, NPC2, NPHP1, NR2F1, NRAS, NRXN1, NSD1, NSDHL, NSUN2, NT5C2, NTRK1, NUBPL, OCLN, OCRL, OFD1, OGT, OPA3, OPHN1, OTC, OTX2, PACS1, PAFAH1B1, PAH, PAK3, PARN, PAX6, PAX8, PC, PCCA, PCCB, PCDH19, PCGF2, PCNT, PDE4D, PDGFRB, PDHA1, PDHX, PDSS1, PDSS2, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM3, PHF6, PHF8, PHGDH, PHIP, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PIK3CA, PIK3R2, PLA2G6, PLCB1, PLK4, PLP1, PMM2, PNKP, PNPLA6, POGZ, POLG, POLR3A, POLR3B, POMGNT1, POMGNT2 (GTDC2), POMT1, POMT2, PORCN, PPM1D, PPP2R1A, PPP2R5D, PPT1, PQBP1, PRKD1, PRMT7, PRODH, PRPS1, PRSS12, PSAP, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTF1A, PTPN11, PTPN23, PTS, PUF60, PURA, PUS1, PYCR1, PYCR2, QARS, QDPR, RAB18, RAB23, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAD21, RAF1, RAI1, RARB, RARS2, RBBP8, RBM10, RELN, RERE, RFT1, RIT1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, ROGDI, ROR2, RORA, RPGRIP1L, RPL10, RPS6KA3, RRM2B, RTEL1, RTTN, SAMD9, SAMHD1, SATB2, SC5D (SC5DL), SCAPER, SCN1A, SCN2A, SCN3A, SCN8A, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SERAC1, SETBP1, SETD2, SETD5, SGSH, SHANK1, SHANK2, SHANK3, SHH, SHOC2, SIL1, SIX3, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC25A1, SLC25A15, SLC25A22, SLC2A1, SLC33A1, SLC35A2, SLC35C1, SLC46A1, SLC4A4, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A8, SLC6A9, SLC9A6, SLX4, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SMPD1, SMS, SNAP29, SNRPB, SNX14, SOS1, SOX10, SOX11, SOX2, SOX3, SOX5, SOX9, SPECC1L, SPG11, SPR, SPRED1, SPTAN1, SPTBN2, SRCAP, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STAG1, STAMBP, STIL, STRA6, STRADA, STX1B, STXBP1, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TAF1, TAF6, TAT, TAZ, TBC1D23, TBC1D24, TBCE, TBCK, TBL1XR1, TBR1, TCF4, TCN2, TCTN2, TECPR2, TGIF1, TH, THOC2, THOC6, THRA, TMCO1, TMEM165, TMEM216, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TMTC3, TPP1, TRAPPC9, TREX1, TRIM32, TRIO, TRIP12, TRIT1, TRMT10A, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSPAN7, TTC19, TTC37, TTC8, TTI2, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP6, TUSC3, TWIST1, UBE2A, UBE3A, UBE3B, UBR1, UBTF, UMPS, UNC80, UPF3B, UROC1, USP9X, VAMP1, VLDLR, VPS13B, VPS53, VRK1, WAC, WDPCP, WDR45, WDR45B, WDR62, WDR73, WDR81, WWOX, XRCC4, YY1, ZBTB18, ZBTB20, ZBTB24, ZC4H2, ZDHHC9, ZEB2, ZFYVE26, ZIC2, ZMYND11, ZNF711 e ZSWIM6
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Desenv-NGS
40503801
R$ 2.790,00 Prazo: 60 a 90 dias
Doenças cardiovasculares: sequenciamento - 160 genes
ABCC6, ABCC9, ABCG5, ABCG8, ABL1, ACTA2, ACTC1, ACTN2, ACVR2B, ACVRL1, ANK2, APOA5, APOB, APOC2, APOE, APP, ATP1A2, BAG3, BGN, BMPR2, CACNA1A, CACNA1C, CACNB2, CALM1, CALM2, CASQ2, CCBE1, CFAP53, CFC1, COL1A1, COL1A2, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, CSRP3, DES, DMD, DSC2, DSG2, DSP, EFEMP2, EIF2AK4, ELN, ENG, EPG5, EPHB4, EYA4, FAT4, FBN1, FBN2, FHL1, FKTN, FLCN, FLNA, FLT4, FOXC1, FOXC2, GATA2, GATA4, GATA6, GDF1, GDF2, GJA1, GJC2, GLA, GLRA1, GPD1, GPD1L, GPIHBP1, HAMP, HCN4, HFE, HFE2, HTRA1, IDH2, IKBKG, JAG1, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNK3, KCNQ1, KIF11, LAMP2, LDB3, LDLR, LDLRAP1, LIPA, LMNA, LOX, LPL, MED12, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, NEXN, NKX2-5, NODAL, NOTCH1, NOTCH2, NOTCH3, NR2F2, PCSK9, PHOX2B, PIEZO1, PKP2, PLN, PLOD1, PRKAG2, PRKG1, PTPN14, RAB3GAP2, RBM20, RYR2, SCN10A, SCN1B, SCN3B, SCN5A, SGCD, SKI, SLC2A10, SLC40A1, SMAD2, SMAD3, SMAD4, SMAD9, SNTA1, SOX17, SOX18, TAZ, TBX4, TBX5, TCAP, TFR2, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TREX1, TRPM4, TTN, VCL, VEGFC e ZIC3
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Cardio-NGS
40503801
R$ 2.790,00 Prazo: 60 a 90 dias
Doenças dermatológicas: sequenciamento - 96 genes
AAGAB, ABCA12, ALAS2, ALOX12B, ALOXE3, APCDD1, AQP5, CARD11, CARD14, CAST, CDH3, CDSN, CERS3, COL17A1, COL7A1, CSTA, CYP4F22, DOCK8, DSC2, DSG1, DSG4, DSP, DST, EDA, EDAR, EDARADD, ENPP1, EXPH5, FECH, FERMT1, GJA1, GJB2, GJB3, GJB4, GJB6, HOXC13, HR, IKBKG, IL36RN, ITGA3, ITGA6, ITGB4, JUP, KDSR, KRT1, KRT10, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT74, KRT85, KRT9, LAMA3, LAMB3, LAMC2, LIPH, LPAR6, MBTPS2, MSX1, MVK, NCSTN, NECTIN1 (PVRL1), NECTIN4 (PVRL4), NFKB2, NFKBIA, NIPAL4, PGM3, PKP1, PLEC, PNPLA1, PORCN, PSEN1, PSENEN, RHBDF2, RMRP, RSPO1, SERPINB7, SLC27A4, SLURP1, SNAP29, SPINK5, ST14, STAT3, STS, SULT2B1, TAT, TGM1, TGM5, TP63, TRPV3, UVSSA e WNT10A
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Dermato-NGS
40503801
R$ 2.790,00 Prazo: 60 a 90 dias
Doenças endócrinas: sequenciamento - 245 genes
AAAS, AARS2, ABCC8, AGPAT2, AIRE, ALMS1, ANKRD11, ANOS1 (KAL1), AR, ARL6, ARX, ATRX, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BLM, BMP15, BRAF, BSCL2, CASR, CAVIN1 (PTRF), CBL, CCDC8, CDC6, CDKN1C, CDT1, CENPJ, CHD7, CISD2, CLPP, CREBBP, CRIPT, CUL4B, CUL7, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DHCR7, DHH, DUOX2, DUOXA2, EIF2AK3, EIF2B5, EP300, ERCC6, ERCC8, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FEZF1, FGD1, FGF8, FGFR1, FOXE1, FOXL2, FOXP3, FSHB, FSHR, GALT, GATA3, GATA4, GATA6, GCK, GCM2, GH1, GHR, GHRHR, GLI2, GLI3, GLIS3, GLUD1, GNA11, GNAS, GNRH1, GNRHR, HADH, HAMP, HDAC8, HESX1, HFE, HFE2, HFM1, HNF1A, HNF1B, HNF4A, HRAS, HSD17B3, HSD17B4, HSD3B2, IER3IP1, IGF1, IGF1R, IGFALS, IGSF1, IL17RD, IL2RA, INS, INSR, IYD, KCNJ11, KDM6A, KISS1R, KMT2D, KRAS, LARS2, LEP, LEPR, LHB, LHCGR, LHX3, LHX4, LIG4, LIPE, LMNA, LRBA, MAMLD1, MAP2K1, MAP2K2, MAP3K1, MC2R, MC4R, MCM8, MCM9, MKKS, MKS1, MNX1, MRAP, MYT1L, NBN, NEUROD1, NEUROG3, NIPBL, NKX2-1, NKX2-2, NNT, NOBOX, NR0B1, NR5A1, NRAS, NSMF, OBSL1, ORC1, ORC4, ORC6, OTX2, PAX8, PCNT, PCSK1, PCYT1A, PDX1, PHF6, PIK3R1, PITX2, PMM2, PNPLA6, POLD1, POLG, POMC, POR, POU1F1, PPARG, PRKAR1A, PROK2, PROKR2, PROP1, PTF1A, PTH, PTPN11, RAD21, RAF1, RBBP8, RFX6, RIT1, RNU4ATAC, ROR2, RPL10, RPS6KA3, RSPO1, SAMD9, SDCCAG8, SECISBP2, SHOC2, SHOX, SLC16A1, SLC16A2, SLC19A2, SLC26A4, SLC29A3, SLC2A2, SLC40A1, SLC5A5, SMC1A, SMC3, SOHLH1, SOS1, SOX10, SOX2, SOX3, SOX9, SRCAP, SRD5A2, SRY, STAG3, STAR, STAT3, STAT5B, TAC3, TACR3, TBCE, TBX19, TFR2, TG, THRA, THRB, TPO, TRHR, TRIM37, TRMT10A, TSHB, TSHR, TTC8, TWNK (C10orf2), VPS13B, WDR11, WFS1, WRN, WT1, XRCC4, ZFP57, ZFPM2 e ZMPSTE24
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Endocrino-NGS
40503801
R$ 2.790,00 Prazo: 60 a 90 dias
Doenças gastroenterológicas: sequenciamento - 134 genes
ABCB11, ABCB4, ABCC2, ACTG2, ADA, ADK, AICDA, AKR1D1, ALDOB, ATP7B, ATP8B1, ATRX, BAAT, BTK, CC2D2A, CD3G, CD40LG, CDX1, CFTR, CLDN1, CLMP, COG7, COL7A1, CTLA4, CYBA, CYBB, CYP27A1, DCDC2, DCLRE1C, DES, DGUOK, DMD, DOCK8, EDN3, EDNRB, EPCAM, FAH, FAM58A, FANCB, FERMT1, FLNA, FOXF1, FOXP3, G6PC3, GALT, GBA, GBE1, GLI3, GUCY2C, HADHA, HNF1B, HPS1, HPS4, HPS6, HSD3B7, ICOS, IDS, IKBKG, IL10, IL10RA, IL10RB, IL2RA, IL2RG, INVS, ITGB2, JAG1, KIF1BP (KIAA1279), L1CAM, LIG4, LIPA, LRBA, MED12, MEFV, MID1, MNX1, MPI, MPV17, MVK, MYO5B, NCF1, NCF2, NOTCH2, NPC1, NPC2, NR1H4, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX6, PHOX2B, PIK3CD, POLG, PTEN, RAG1, RAG2, RECQL4, RET, RRM2B, RTEL1, SALL1, SAMD9, SCN11A, SH2D1A, SKIV2L, SLC25A13, SLC37A4, SMPD1, SOX10, STAT1, STAT3, STXBP2, TALDO1, TGFBR1, TGFBR2, TJP2, TMEM70, TRMU, TTC37, TTC7A, TYMP, UGT1A1, VIPAS39, VPS33B, WAS, XIAP, ZEB2 e ZIC3
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Gastro-NGS
40503801
R$ 2.790,00 Prazo: 60 a 90 dias
Doenças hematológicas e imunológicas: sequenciamento - 202 genes
ABCB7, ABCG5, ABCG8, ACTN1, ACVRL1, ADAMTS13, AK1, ALAS2, ALDOA, AMN, ANK1, ANKRD26, ANO6, AP3B1, AP3D1, APOA1, APOA2, BLOC1S3, BLOC1S6, BRCA2, BRIP1, C15orf41, CD59, CDAN1, CDC42, CHST14, COL1A1, COL5A1, COL5A2, CSF3R, CTC1, CUBN, CXCR4, CYCS, DHFR, DIAPH1, DKC1, DTNBP1, ELANE, ENG, EPB41, EPB42, ERCC4, ERCC6L2, ETV6, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FERMT3, FGA, FGB, FGG, FLI1, FLNA, G6PC3, G6PD, GATA1, GATA2, GBA, GCLC, GFI1, GFI1B, GGCX, GLRX5, GNE, GP1BA, GP1BB, GP6, GP9, GSN, GSS, HAX1, HBA1, HBA2, HBB, HK1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRG, IL1RN, IL36RN, ITGA2B, ITGB3, KDSR, KIF23, KLF1, KLKB1, KNG1, LMAN1, LPIN2, LYST, LYZ, MCFD2, MECOM, MEFV, MPL, MTR, MTRR, MVK, MYH9, NBEA, NBEAL2, NBN, NLRP12, NLRP3, NOD2, NT5C3A, OSMR, P2RY12, PALB2, PFKM, PIEZO1, PKLR, PLA2G4A, PLAT, PLAU, PLG, PROC, PROS1, PSMB8, PSTPIP1, PTPN11, PUS1, RASGRP2, RBM8A, RHAG, RMRP, RNU4ATAC, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RTEL1, RUNX1, SAMD9, SBDS, SEC23B, SERPINC1, SERPIND1, SERPINE1, SERPINF2, SLC11A2, SLC19A2, SLC25A38, SLC2A1, SLC45A2, SLC4A1, SLX4, SMAD4, SPTA1, SPTB, SRC, STIM1, STXBP2, TAZ, TBXA2R, TBXAS1, TCN2, TERT, TF, THBD, THPO, TMPRSS6, TNFRSF1A, TPI1, TTR, TUBB1, UBE2T, UROS, VIPAS39, VKORC1, VPS33B, VPS45, VWF, WAS, WIPF1 e YARS2
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Hemato-NGS
40503801
R$ 2.790,00 Prazo: 60 a 90 dias
Doenças metabólicas: sequenciamento - 502 genes
AARS2, AASS, ABAT, ABCA1, ABCB11, ABCB4, ABCB7, ABCD1, ABCD4, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ADAR, AFG3L2, AGA, AGK, AGL, AGPS, AGXT, AIFM1, AKR1D1, ALAD, ALDH18A1, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG3, ALG6, ALG8, ALG9, AMACR, AMN, AMT, ANO10, APOA1, APOA5, APOC2, APOE, APOPT1, APRT, APTX, ARG1, ARSA, ARSB, ARSE, ASL, ASPA, ASS1, ATAD3A, ATIC, ATP13A2, ATP6V0A2, ATP7A, ATP7B, ATP8B1, ATPAF2, AUH, B3GALNT2, B3GALT6, B3GAT3, B4GALT1, B4GALT7, BAAT, BCKDHA, BCKDHB, BCKDK, BCS1L, BOLA3, BTD, C12orf65, C19orf12, CA5A, CAT, CBS, CHCHD10, CHKB, CHST14, CHST3, CHST6, CHSY1, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CNNM2, COG1, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX7B, CP, CPOX, CPS1, CPT1A, CPT2, CTH, CTNS, CTSA, CTSD, CTSK, CUBN, CYC1, CYP27A1, D2HGDH, DARS, DARS2, DBH, DBT, DDC, DGUOK, DHFR, DHTKD1, DLAT, DLD, DMPK, DNA2, DNAJC19, DNAJC5, DNM1L, DOLK, DPAGT1, DPM1, DPM2, DPYD, DPYS, DYM, EARS2, EBP, ECHS1, ELAC2, ENO3, EPG5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXT1, EXT2, FA2H, FAH, FAR1, FARS2, FASTKD2, FBP1, FBXL4, FH, FKRP, FKTN, FMO3, FOLR1, FOXRED1, FUCA1, FUT8, FXN, G6PC, G6PC3, GAA, GABRG2, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GARS, GATM, GBA, GBE1, GCDH, GCH1, GCLC, GDAP1, GFER, GFM1, GFPT1, GIF, GLA, GLB1, GLDC, GLRA1, GLRX5, GLUD1, GLYCTK, GM2A, GMPPB, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPD1, GPHN, GRHPR, GSS, GTPBP3, GUSB, GYG1, GYS1, GYS2, HADHA, HADHB, HAMP, HCCS, HCFC1, HEXA, HEXB, HFE, HFE2, HGD, HGSNAT, HIBCH, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HPRT1, HSD17B4, HSD3B7, HSPD1, HTRA2, HYAL1, IARS2, IBA57, IDH2, IDS, IDUA, IER3IP1, ISPD, ITPA, IVD, KARS, KYNU, L2HGDH, LAMP2, LARS2, LCAT, LCT, LDHA, LIAS, LIPA, LIPT1, LMBRD1, LONP1, LPIN1, LPL, LRPPRC, MAN1B1, MAN2B1, MARS2, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MDH2, MFF, MFN2, MFSD8, MGAT2, MGME1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOGS, MPDU1, MPI, MPV17, MRPS22, MSMO1, MTHFR, MTO1, MTR, MTRR, MTTP, MUT, NAGA, NAGLU, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NFU1, NGLY1, NHLRC1, NPC1, NPC2, NSDHL, NT5C3A, NUBPL, OAT, OPA1, OPA3, OTC, OXCT1, PAH, PC, PCBD1, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PLA2G6, PMM2, PMPCA, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMT1, POMT2, PPOX, PPT1, PRKAG2, PRODH, PSAP, PUS1, PYCR1, PYGL, PYGM, QDPR, RANBP2, RARS2, RBCK1, RFT1, RMND1, ROBO3, RPIA, RPL10, RRM2B, SACS, SAMHD1, SAR1B, SARS2, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SERAC1, SGSH, SI, SLC16A1, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC2A2, SLC30A10, SLC35C1, SLC35D1, SLC37A4, SLC39A4, SLC40A1, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC6A19, SLC6A20, SLC7A7, SMPD1, SPG7, SRD5A3, SSR4, ST3GAL5, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, TACO1, TALDO1, TAZ, TFR2, TIMM8A, TK2, TMEM165, TMEM5, TMEM70, TPK1, TPP1, TRIM37, TRMU, TRNT1, TRPM6, TSFM, TTC19, TUSC3, TYMP, UGT1A1, UMPS, UQCRQ, UROD, UROS, VARS2, WDR45, XDH, XYLT1, XYLT2 e YARS2
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Metabolico-NGS
40503801
R$ 2.790,00 Prazo: 60 a 90 dias
Doenças oftalmológicas: sequenciamento - 324 genes
ABCA4, ABHD12, ACO2, ACTB, ACTG1, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADGRV1 (GPR56), AGK, AGPS, AHI1, AIPL1, ALDH18A1, ALDH1A3, ALMS1, ARL2BP, ARL6, ATF6, ATOH7, B3GALT1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BMP4, C12orf57, C1QTNF5, C21orf2, C2orf71, C8orf37, CA4, CABP4, CACNA1A, CACNA1F, CAPN5, CC2D2A, CDH23, CDH3, CDHR1, CEP164, CEP290, CEP78 (B3GALTL), CERKL, CHD7, CHM, CHMP4B, CHRDL1, CHST6, CIB2, CLDN19, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL18A1, COL2A1, COL4A1, COL8A2, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, CSPP1, CTNNB1, CYP1B1, CYP27A1, CYP4V2, DCN, DHCR7, DHDDS, EFEMP1, ELOVL4, EPHA2, ERCC2, ERCC3, ERCC6, ERCC8, EYS, FAM126A, FAM161A, FLVCR1, FOXC1, FOXD3, FOXE3, FRAS1, FREM1, FREM2, FRMD7, FTL, FYCO1, FZD4, GALK1, GALT, GCNT2, GJA1, GJA3, GJA8, GNAT1, GNAT2, GNPAT, GNPTG, GPR143, GPR179, GRIP1, GRK1, GRM6, GSN, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HGSNAT, HMX1, HSF4, HTRA2, IDH3B, IFT140, IMPDH1, IMPG1, IMPG2, INPP5E (PMPCA), INPP5K, IQCB1, JAM3, KCNJ13, KCNV2, KERA, KIF11, KLHL7, KRT12, KRT3, LCA5, LIM2, LRAT, LRIT3, LRMDA (C10orf11), LRP5, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAK, MAN2B1, MERTK, MFN2, MFRP, MIP, MIR184, MKKS, MKS1, MSMO1, MYH9, MYO7A, MYOC, NDP, NF2, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OTX2, PANK2, PAX2, PAX6, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PIK3R1, PIKFYVE, PITX2, PITX3, PLA2G5, PORCN, PRCD, PRDM5, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PUF60, PXDN, RAB18, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, RGR, RGS9, RHO, RLBP1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SALL4, SCAPER, SDCCAG8, SEMA4A, SHH, SIL1, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC25A46, SLC2A1, SLC33A1, SLC38A8, SLC45A2, SLC4A11, SLC52A2, SMO, SMOC1, SNRNP200, SOX2, SPATA7, SRD5A3, STRA6, TACSTD2, TBC1D20, TDRD7, TFAP2A, TGFBI, TIMP3, TMEM237, TMEM98, TOPORS, TRIM32, TRPM1, TSPAN12, TTC8, TUB, TULP1, TYR, TYRP1, UBIAD1, USH1C, USH1G, USH2A, VCAN, VIM, VPS13B, VSX1, VSX2, WDPCP, WDR19, WFS1, WRN, YAP1, ZEB1, ZNF408, ZNF423 e ZNF469
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Oftalmo-NGS
40503801
R$ 2.790,00 Prazo: 60 a 90 dias
Doenças renais e do trato urinário: sequenciamento - 129 genes
ACE, ACTG2, ACTN4, AGT, AGTR1, AGXT, AMN, ANKS6, ANOS1 (KAL1), APRT, AQP2, ARHGDIA, ATP6V0A4, ATP6V1B1, AVPR2, BSND, C3, CA2, CASR, CD46, CEP164, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR5, CFI, CHD7, CLCN5, CLCNKB, CLDN16, CLDN19, COL4A1, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B (ADCK4), CTNS, CUBN, CUL3, CYP11B1, CYP11B2, CYP17A1, CYP24A1, DGKE, DSTYK, EHHADH, EYA1, FAH, FRAS1, FREM1, FREM2, GATA3, GLI3, GRHPR, GRIP1, HNF1B, HOGA1, HPSE2, HSD11B2, INF2, INVS, ITGA3, ITGA8, KCNJ1, KCNJ5, KLHL3, KYNU, LAMB2, LCAT, LMX1B, LRIG2, MUC1, MYH9, MYO1E, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR3C1, NR3C2, NUP107, OCRL, OFD1, PAX2, PBX1, PKD1, PKD2, PKHD1, PLCE1, REN, RET, RPGRIP1L, RRM2B, SALL1, SCARB2, SCNN1B, SCNN1G, SIX5, SLC12A1, SLC12A3, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC4A4, SLC7A9, SLC9A3R1, SMARCAL1, STRADA, TBX18, TMEM67, TRAP1, TRPC6, TRPM6, TSC1, TSC2, TTC21B, UMOD, VHL, VPS33B, WNK1, WNK4, WT1 e XDH
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Renal-NGS
40503801
R$ 2.790,00 Prazo: 60 a 90 dias
Doenças respiratórias / pulmonares: sequenciamento - 36 genes
ABCA3, ACVRL1, AP3B1, ASAH1, COL3A1, CSF2RA, CSF2RB, DKC1, ENG, FAM111B, FBN1, FLCN, GBA, HPS1, HPS4, ITGA3, NKX2-1, PARN, RTEL1, SERPINA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMAD4, SMPD1, TERC, TERT, TGFB2, TGFB3, TGFBR1, TGFBR2, TINF2, TSC1 e TSC2
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Pulmonar-NGS
40503801
R$ 2.790,00 Prazo: 60 a 90 dias
Fibrose Cística
Agenesia de canal deferente
Pancreatite hereditária
Bronquiectasia idiopática
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
CFTR
CFTR-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Perda auditiva hereditária: sequenciamento - 134 genes
ABHD12, ACTG1, ADGRV1 (GPR98), ALMS1, ATP1A3, ATP6V1B1, BCS1L, BMP4, BSND, CABP2, CDC6, CDH23, CDT1, CHD7, CIB2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A2, COL4A5, COL4A6, DFNA5, DFNB59, DHODH, DNMT1, DSPP, EDN3, EDNRA, EDNRB, EFTUD2, EIF4A3, EPS8, ESPN, ESRRB, EYA1, EYA4, FGF10, FGF3, FGFR2, FGFR3, FRAS1, FREM2, GATA3, GIPC3, GJB2, GJB3, GNAI3, GPSM2, GRHL2, GRIP1, GRXCR1, GSC, HMX1, HOXA2, HSD17B4, HSPA9, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KDM6A, KIT, KMT2D, LARS2, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MASP1, MITF, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OFD1, OPA1, ORC1, ORC4, ORC6, OSBPL2, OTOA, OTOF, OTOG, OTX2, P2RX2, PAX2, PAX3, PCDH15, PDZD7, PLCB4, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SALL1, SALL4, SERAC1, SERPINB6, SF3B4, SIX1, SLC26A4, SLC4A11, SMPX, SNAI2, SOX10, SOX2, STRC, TBC1D24, TCOF1, TECTA, TFAP2A, TIMM8A, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TSHZ1, USH1C, USH1G, USH2A, WFS1 e WHRN (DFNB31)
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Auditivo-NGS
40503801
R$ 2.790,00 Prazo: 60 a 90 dias
Anemia de Fanconi grupo de complementação A
FANCA
FANCA-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Anemia de Fanconi grupo de complementação C
FANCC
FANCC-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Anemia de Fanconi grupo de complementação D2
FANCD2
FANCD2-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Anemia de Fanconi grupo de complementação E
FANCE
FANCE-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Anemia de Fanconi grupo de complementação F
FANCF
FANCF-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Anemia de Fanconi grupo de complementação G
FANCG
FANCG-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Deficiência de biotinidase
BTD
BTD-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Displasia diastrófica
Atelosteogênese tipo II
Acondrogênese tipo IB
Displasia epifisária múltipla tipo 4
Displasia diastrófica
variante com plastipondilia
Displasia De la Chapelle
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
SLC26A2
SLC26A2-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Distrofia muscular de Emery-Dreifuss ligada ao X tipo 1
EMD
EMD-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Distrofia muscular de cinturas tipo 2A
CAPN3
CAPN3-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome de Rothmund-Thomson
Síndrome RAPADILINO
Síndrome de Baller-Gerold
RECQL4
RECQL4-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome de Shwachman-Bodian-Diamond
SBDS
SBDS-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome de quebras de Nijmegen
NBN
NBN-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias

 

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