Anomalias congênitas múltiplas: sequenciamento - 404 genes

ACTB, ACTG1, AHI1, ALMS1, AMER1, ANKRD11, ANKS6, AP1S1, AP3B1, ARHGAP31, ARL13B, ARL6, ARMC4, ASAH1, ASPM, ASXL1, ATR, ATRX, B3GLCT (B3GALTL), B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BLM, BRAF, BRCA2, BRIP1, BRWD3, C21orf2, C21orf59, C2CD3, C5orf42, CASK, CBL, CC2D2A, CCBE1, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CDH1, CDK5RAP2, CDKN1C, CDT1, CENPJ, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP63, CEP83, CFTR, CHD4, CHD7, CHRNG, CHST14, CKAP2L, COL11A1, COL11A2, COL2A1, COL9A1, COLEC11, CRB2, CREBBP, CSPP1, CTCF, CTNNB1, CTNND1, CTSA, DDB2, DDX11, DDX59, DHCR7, DHODH, DIAPH1, DLL4, DNAAF1, DNAAF2, DNAAF3, DNAAF4 (DYX1C1), DNAAF5 (HEATR2), DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DNMT3A, DOCK6, DPP6, DRC1, DVL1, DYNC2H1, DYRK1A, EBP, EDN1, EDNRA, EFNB1, EFTUD2, EIF2S3, EIF4A3, EOGT, EPG5, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, EVC, EVC2, EYA1, EZH2, FAM20C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FGD1, FGF10, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, FLT4, FOXC2, FOXP3, FRAS1, GALNS, GBA, GBE1, GJA1, GLA, GLB1, GLI2, GLI3, GNA13, GNPTAB, GPC3, GRHL3, GTF2H5, GUSB, HBA1, HBA2, HDAC8, HNF1B, HOXA13, HRAS, HYDIN, HYLS1, ICK, IER3IP1, IFT122, IFT140, IFT172, IFT80, IGF1, IGF1R, IMPAD1, INPP5E (PMPCA), INVS, IQCB1, IRF6, KAT6A, KCNH1, KCNJ2, KDM6A, KIF11, KIF1BP (KIAA1279), KIF7, KLF1, KMT2D, KNL1 (CASC5), KRAS, KYNU, LAMP2, LARP7, LBR, LIG4, LIPA, LMBR1, LRRC6, LYST, LZTFL1, LZTR1, MAP2K1, MAP2K2, MAPRE2, MASP1, MBTPS2, MCPH1, MEIS2, MFSD2A, MID1, MKKS, MKS1, MLPH, MPLKIP, MSMO1, MSX1, MYCN, MYO5A, NBN, NDE1, NECTIN1 (PVRL1), NEDD4L, NEK1, NEK8, NEU1, NF1, NFIX, NHEJ1, NIPBL, NOTCH1, NPC1, NPHP1, NPHP3, NPHP4, NRAS, NSD1, OFD1, ORC1, ORC4, ORC6, PALB2, PAX3, PCNT, PDHA1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHF8, PIEZO1, PIEZO2, PIGN, PIGV, PIK3CD, PKD1, PKD2, PKHD1, PLCB4, PLK4, PMM2, PNKP, POC1A, POLH, POLR1C, POLR1D, PORCN, PQBP1, PTCH1, PTPN11, PUF60, RAB27A, RAD21, RAF1, RBBP8, RBM10, RBM8A, RECQL4, RIT1, RNU4ATAC, ROR2, RPGR, RPGRIP1L, RPL10, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RSPH1, RSPH4A, RSPH9, RTTN, SALL1, SALL4, SATB2, SBDS, SCARF2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEPT9, SF3B4, SHH, SHOC2, SHOX, SIL1, SIX1, SIX3, SIX5, SKI, SLC17A5, SLC25A19, SLC26A2, SLC9A6, SLX4, SMAD3, SMAD4, SMC1A, SMC3, SMPD1, SMS, SNAP29, SNRPB, SOS1, SOS2, SOX9, SPAG1, SPECC1L, SPRED1, STAMBP, STIL, TALDO1, TBX1, TBX22, TBX3, TBX5, TCOF1, TCTN1, TCTN2, TCTN3, TELO2, TFAP2A, TGDS, TGFB3, TGFBR1, TGFBR2, TMCO1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOP3A, TP63, TRAF3IP1, TRAP1, TRAPPC9, TRIM37, TRMT10A, TTC21B, TTC8, TUBB, TUBGCP4, TUBGCP6, TXNL4A, UBE2T, USP9X, VPS13B, WDPCP, WDR19, WDR34, WDR35, WDR62, WDR73, WNT5A, WNT7A, XPA, XPC, XRCC4, XYLT1, ZEB2, ZIC2, ZIC3, ZMYND10 e ZSWIM6

Anomalias-NGS

R$ 2.790,00 Prazo: 60 a 90 dias

Câncer hereditário: sequenciamento - 94 genes

AIP, ALK, APC, ATM, BAP1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CYLD, DDB2, DICER1, DIS3L2, EGFR, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GATA2, GPC3, HNF1A, HRAS, KIT, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NSD1, PALB2, PHOX2B, PMS1, PMS2, PPM1D, PRF1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA e XPC

Cancer-NGS

R$ 1.390,00 Prazo: 60 a 90 dias

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

Desenv-NGS

R$ 2.790,00 Prazo: 60 a 90 dias

Doença Celíaca

HLA - DQA1*05, HLA - DQB1*02, HLA - DQA1*03 e HLA - DRB1

HLA-MUT

R$ 410,00 Prazo: 15 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

Cardio-NGS

R$ 2.790,00 Prazo: 60 a 90 dias

Doenças cerebrovasculares: sequenciamento - 416 genes

AARS, ABAT, ACOX1, ACTA2, ACVRL1, ADAR, ADCY5, ADSL, AIMP1, AKT1, AKT3, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG13, ALG3, ALG6, ALG8, ALG9, ALPL, AMPD2, AMT, AP3B2, ARFGEF2, ARG1, ARHGEF9, ARID1B, ARV1, ARX, ASPA, ATL1, ATL3, ATN1, ATP1A1, ATP1A2, ATP1A3, ATP2A1, ATP6V0A2, ATP7A, ATP7B, ATR, ATRX, B3GLCT (B3GALTL), BCKDHA, BCKDHB, BCS1L, BOLA3, BRAF, BRAT1, BSCL2, BTD, C12orf57, CACNA1A, CACNA1D, CACNA1E, CACNA1G, CACNA1S, CACNB4, CASK, CC2D2A, CCM2, CDKL5, CEP152, CHD2, CHRNA2, CHRNA4, CHRNB2, CIC, CLCN1, CLCN4, CLN3, CLN8, CNKSR2, CNNM2, CNTNAP2, COG7, COL18A1, COL3A1, COL4A1, COL4A2, COQ2, COQ4, COQ8A (ADCK3), COQ8B (ADCK4), COQ9, CPA6, CREBBP, CSTB, CTSD, D2HGDH, DCX, DDX3X, DEAF1, DENND5A, DEPDC5, DHCR7, DHDDS, DIAPH1, DNM1, DNM1L, DOCK7, DPAGT1, DPM1, DPYD, DYNC1H1, DYRK1A, EARS2, EEF1A2, EFTUD2, EHMT1, EIF2B2, EIF2B4, EIF2B5, EIF2S3, ELN, EML1, EMX2, ENG, EPG5, EPM2A, ETHE1, EXOSC3, FAR1, FARS2, FBXL4, FBXO11, FGFR3, FH, FKTN, FLNA, FLVCR2, FOLR1, FOXG1, FRRS1L, FUCA1, FUT8, GABBR2, GABRA1, GABRB3, GABRG2, GALC, GAMT, GBA, GCH1, GFAP, GFM1, GLA, GLB1, GLDC, GLRA1, GLRB, GLUD1, GLUL, GLYCTK, GM2A, GNAO1, GNAQ, GNB5, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GSS, GUCY1A3, HACE1, HAX1, HBB, HCFC1, HCN1, HCN2, HEPACAM, HEXA, HLCS, HMGCL, HNRNPU, HRAS, HSD17B4, HTRA2, IDH2, IER3IP1, IFIH1, IKBKG, IQSEC2, ITPA, JAG1, KARS, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ10, KCNJ11, KCNJ2, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCTD3, KCTD7, KIF1A, KIF2A, KIF5C, KRAS, KRIT1, LARGE1 (LARGE), LGI1, LIAS, LYST, MACF1, MAF, MAGI2, MAP2K1, MAP2K2, MBD5, MBOAT7, MDH2, MECP2, MED12, MEF2C, MFF, MFSD8, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MTHFR, MTOR, MTR, NAGA, NARS2, NDE1, NDUFA1, NDUFA10, NDUFAF2, NDUFAF5, NDUFS4, NDUFS8, NDUFV1, NF1, NGF, NGLY1, NHLRC1, NOTCH3, NRXN1, NSD1, NSDHL, NTRK1, NTRK2, OCLN, OPHN1, PACS1, PAFAH1B1, PAH, PCCA, PCCB, PCDH19, PCNT, PDCD10, PDHA1, PDHX, PET100, PEX1, PEX10, PEX12, PEX13, PEX19, PEX2, PEX3, PEX6, PEX7, PHACTR1, PHGDH, PIGA, PIGN, PIGO, PIGT, PIGW, PIK3CA, PIK3R2, PKD1, PKD2, PLCB1, PMM2, PNKD, PNKP, PNPO, POLG, POMGNT1, POMGNT2 (GTDC2), POMT1, PPP3CA, PPT1, PRICKLE1, PRMT7, PRNP, PRODH, PRRT2, PSAP, PTEN, PTPN23, PTS, PURA, PYGM, QARS, QDPR, RAB18, RAB7A, RANBP2, RARS2, RASA1, RELN, RFT1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, RORA, RTTN, RYR1, SAMHD1, SCARB2, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SEPSECS, SEPT9, SETBP1, SETD5, SLC12A5, SLC13A5, SLC16A2, SLC1A2, SLC1A3, SLC25A1, SLC25A12, SLC25A22, SLC2A1, SLC2A10, SLC35A2, SLC6A1, SLC6A19, SLC6A5, SLC6A8, SLC9A6, SMAD3, SMAD4, SMARCA2, SMS, SPR, SPTAN1, SPTLC1, SPTLC2, ST3GAL5, STAG1, STAMBP, STRADA, STX1B, STXBP1, SUCLA2, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBCK, TBL1XR1, TCF4, TGFB2, TGFBR1, TGFBR2, TMEM70, TPP1, TRAK1, TREX1, TRPA1, TRPM6, TSC1, TSC2, TSEN2, TSEN54, TTR, TUBA1A, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TWNK (C10orf2), UBE2A, UBE3A, UNC80, WDR45, WDR45B, WDR62, WDR73, WNK1, WWOX, ZBTB18 e ZEB2

Encefalo-NGS

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

Dermato-NGS

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

Endocrino-NGS

R$ 2.790,00 Prazo: 60 a 90 dias

Doenças esqueléticas / craniofaciais / doenças do tecido conectivo: sequenciamento - 408 genes

ABCC6, ABCC9, ABL1, ACAN, ACP5, ACVR1, ADAMTS2, ADAMTSL2, AEBP1, AGA, AGPS, ALDH18A1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMBN, AMELX, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARSB, ARSE, ASXL1, ATP6V0A2, ATP7A, B3GALT6, B3GAT3, B4GALT7, B9D1, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, C1R, C1S, C21orf2, C2CD3, C4orf26, CA2, CANT1, CASR, CBS, CC2D2A, CCDC8, CDH3, CDKN1C, CDT1, CEP120, CEP290, CHD7, CHST14, CHST3, CHSY1, CLCN5, CLCN7, CNNM4, COL10A1, COL11A1, COL11A2, COL12A1, COL17A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COLEC11, COMP, CREB3L1, CREBBP, CRTAP, CSPP1, CTSA, CTSC, CTSK, CUL7, CYP27B1, DDR2, DHCR24, DHODH, DIS3L2, DLL3, DLL4, DLX3, DLX5, DMP1, DNMT3A, DOCK6, DPM1, DSE, DVL1, DYM, DYNC2H1, EBP, EDN1, EFEMP2, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ELN, ENAM, ENPP1, EOGT, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20C, FAM58A, FAM83H, FBLN5, FBN1, FBN2, FERMT3, FGF10, FGF16, FGF23, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FOXE1, FUCA1, GALNS, GALNT3, GDF5, GDF6, GGCX, GHR, GJA1, GLB1, GLI2, GLI3, GNA13, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPR68, GPX4, GSC, GUSB, HDAC4, HDAC8, HES7, HGSNAT, HOXA13, HOXD13, HPGD, HSPG2, HYLS1, ICK, IDH1, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT80, IHH, IKBKG, IL11RA, IL1RN, IMPAD1, INPPL1, ITGB6, KAT6A, KIF22, KIF7, KLK4, KMT2D, KRAS, LAMA3, LAMB3, LBR, LEMD3, LIFR, LMBR1, LMNA, LMX1B, LONP1, LOX, LPIN2, LRP4, LRP5, LTBP3, LTBP4, MAFB, MAN2B1, MATN3, MEGF8, MEOX1, MESP2, MGP, MKS1, MMP13, MMP2, MMP20, MNX1, MPDU1, MSX2, MYCN, NAGLU, NEK1, NEU1, NF1, NFIX, NIN, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPR2, NSD1, NSDHL, OBSL1, OFD1, ORAI1, ORC1, ORC4, ORC6, OSTM1, P3H1 (LEPRE1), PAPSS2, PCNT, PCYT1A, PDE4D, PEX1, PEX5, PEX6, PEX7, PGM3, PHEX, PHGDH, PIGT, PIGV, PIK3R1, PITX1, PLCB4, PLOD1, PLOD2, PLS3, POC1A, POLR1C, POLR1D, POP1, POR, PPIB, PRDM5, PRKAR1A, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RASGRP2, RBM8A, RBPJ, RECQL4, RFT1, RIN2, RMRP, RNU4ATAC, ROBO3, ROGDI, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SBDS, SCARF2, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SGSH, SH3BP2, SH3PXD2B, SHOX, SKI, SLC13A5, SLC17A5, SLC24A4, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCAL1, SMC1A, SMC3, SMO, SMOC1, SNRPB, SNX10, SOST, SOX9, SP7, SPINT2, STAT3, STIM1, SUMF1, TALDO1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN2, TCTN3, TERT, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THPO, TMCO1, TMEM165, TMEM216, TMEM231, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TWIST2, TXNL4A, TYROBP, USP9X, WDR19, WDR34, WDR35, WDR60, WDR72, WISP3, WNT1, WNT10B, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, YY1, ZEB2, ZIC1, ZMPSTE24 e ZNF469

Cranio-NGS

R$ 2.790,00 Prazo: 60 a 90 dias

Doenças gastroenterológicas: sequenciamento - 184 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

Gastro-NGS

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

Hemato-NGS

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

Metabolico-NGS

R$ 2.790,00 Prazo: 60 a 90 dias

Doenças motoras e sensitivas do sistema nervoso periférico: sequenciamento - 320 genes

AAAS, AARS, ABCB7, ABCD1, ABHD12, ADAR, ADCY5, ADGRG1 (GPR56), AFG3L2, AIFM1, AIMP1, ALDH18A1, ALS2, AMPD2, ANO10, ANO3, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, APTX, AR, ARG1, ARHGEF10, ARSA, ASAH1, ATCAY, ATL1, ATL3, ATM, ATP13A2, ATP1A3, ATP7A, ATP7B, B3GALNT2, B4GALNT1, BCAP31, BCS1L, BICD2, BSCL2, C12orf65, C19orf12, CA8, CACNA1A, CACNA1G, CAMTA1, CAPN1, CASK, CHCHD10, CHMP1A, CHMP2B, CLCN2, CLN6, CLP1, COASY, COQ8A (ADCK3), COX10, COX15, COX20, COX6A1, CP, CSTB, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DARS2, DBH, DCAF17, DDC, DDHD1, DDHD2, DHFR, DKC1, DLAT, DNAJC19, DNAJC5, DNM2, DNMT1, DYNC1H1, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELP1 (IKBKAP), EPM2A, ERLIN1, ERLIN2, ETHE1, EXOSC3, FA2H, FARS2, FBLN5, FBXO7, FGD4, FGF14, FIG4, FKRP, FKTN, FLVCR1, FMR1, FOLR1, FOXP2, FTL, FXN, GAN, GARS, GBA2, GCDH, GCH1, GDAP1, GFAP, GJB1, GJC2, GLA, GMPPB, GNAO1, GOSR2, GRID2, GRM1, HACE1, HARS, HEXA, HEXB, HIBCH, HINT1, HK1, HPCA, HSPB1, HSPB8, HSPD1, HTRA2, IFIH1, IGHMBP2, INF2, ISG15, ISPD, ITPR1, IVD, JPH3, KCNA1, KCNC3, KCND3, KCNJ10, KIF1A, KIF1C, KIF5A, L1CAM, LARGE1 (LARGE), LITAF, LMNA, LRSAM1, MAOA, MARS2, MFN2, MMACHC, MME, MPV17, MPZ, MRE11 (MRE11A), MTMR2, MTTP, MUT, NDRG1, NDUFA1, NDUFA10, NDUFAF2, NDUFAF6, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEFL, NGF, NHLRC1, NIPA1, NPC1, NPC2, NTRK1, OCLN, OPA3, OPHN1, PANK2, PAX6, PCCA, PCCB, PDE10A, PDGFB, PDGFRB, PDHA1, PDP1, PDYN, PEX16, PEX7, PHYH, PINK1, PLA2G6, PLEKHG5, PLP1, PMP22, PMPCA, PNKD, PNKP, PNPLA6, POLG, POLR3A, POMGNT1, POMGNT2 (GTDC2), POMT1, POMT2, PPP2R2B, PRKCG, PRKN (PARK2), PRKRA, PRNP, PRPS1, PRRT2, PRX, PTF1A, PTS, QDPR, RAB39B, RAB7A, RARS2, REEP1, RELN, RETREG1 (FAM134B), RNF170, RNF216, ROBO3, RTN2, SACS, SAR1B, SBF2, SCN11A, SCN9A, SDHA, SEPSECS, SEPT9, SERAC1, SETX, SGCE, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC16A2, SLC19A3, SLC1A3, SLC20A2, SLC25A19, SLC25A46, SLC2A1, SLC30A10, SLC52A2, SLC52A3, SLC6A3, SLC9A6, SMN1, SNX14, SPART (SPG20), SPAST, SPG11, SPG21, SPG7, SPR, SPTBN2, SPTLC1, SPTLC2, SRD5A3, STUB1, SUCLA2, SUCLG1, SURF1, SYNE1, SYNJ1, TBP, TFG, TGM6, TH, THAP1, TINF2, TMEM240, TMEM5, TOR1A, TPP1, TRPV4, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TTR, TUBA1A, TUBB2B, TUBB3, TUBB4A, TWNK (C10orf2), TYMP, UBA1, VCP, VLDLR, VPS13A, VRK1, WASHC5 (KIAA0196), WDR45, WDR45B, WDR73, WDR81, WFS1, WNK1, WWOX, YARS, YY1 e ZFYVE26

NeuroA-NGS

R$ 2.790,00 Prazo: 60 a 90 dias

Doenças neurodegenerativas: sequenciamento - 246 genes

AARS2, ABCD1, ACOX1, ACP5, ACTB, ACTG1, ADAR, ADGRG1 (GPR56), AIMP1, AKT3, ALDH3A2, ALS2, ANG, AP1S2, APP, AR, ARFGEF2, ARSA, ARX, ASPA, ASPM, ATN1, ATP13A2, ATP1A3, B3GALNT2, BCAP31, BCS1L, C19orf12, C9orf72, CCND2, CDON, CHMP2B, CIC, CLCN2, COL4A1, COQ2, COQ8A (ADCK3), COX10, COX15, CSF1R, CTC1, CYP27A1, CYP2U1, D2HGDH, DAG1, DARS, DARS2, DCTN1, DCX, DGUOK, DISP1, DNAJC5, DNAJC6, DNMT1, DPYD, DYNC1H1, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPM2A, ERCC6, ERCC8, ETFDH, FAM126A, FBXO7, FGF8, FGFR1, FIG4, FKRP, FKTN, FLNA, FLVCR2, FOLR1, FTL, FUCA1, FUS, GALC, GBA, GBE1, GCH1, GFAP, GFM1, GJA1, GJB1, GJC2, GLI2, GPSM2, GRN, HEPACAM, HNRNPA1, HSD17B4, IBA57, IFIH1, ISPD, ITM2B, JAM3, JPH3, KATNB1, KIF1BP (KIAA1279), KIF2A, KIF5C, L2HGDH, LAMB1, LAMC3, LARGE1 (LARGE), LMNB1, LRRK2, LYRM7, LYST, MAPT, MCOLN1, MEF2C, MLC1, MPLKIP, MTFMT, MTOR, NDE1, NDUFAF1, NDUFAF3, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEDD4L, NHLRC1, NOP56, NOTCH3, NUBPL, OCLN, OPA3, OPTN, PAFAH1B1, PANK2, PARK7, PDGFB, PDGFRB, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFN1, PIK3CA, PIK3R2, PINK1, PLA2G6, PLP1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2 (GTDC2), POMT1, POMT2, PPP2R2B, PRKN (PARK2), PRKRA, PRNP, PSAP, PSEN1, PSEN2, PTCH1, PYCR2, RAB39B, RARS, RELN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, RTTN, SAMHD1, SCO1, SCO2, SCP2, SDHAF1, SDHB, SETX, SHH, SIGMAR1, SIX3, SLC16A2, SLC17A5, SLC20A2, SLC25A12, SLC25A4, SLC30A10, SLC52A2, SLC52A3, SLC6A3, SMO, SNCA, SOD1, SOX10, SPG11, SPR, SUCLA2, SUMF1, SURF1, SYNJ1, TACO1, TARDBP, TBK1, TBP, TGIF1, TH, TMEM5, TREM2, TREX1, TSC1, TSC2, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TWNK (C10orf2), TYMP, TYROBP, UBQLN2, VAPB, VCP, VPS13A, VPS35, WDR45, WDR62 e ZIC2

NeuroB-NGS

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

Oftalmo-NGS

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

Renal-NGS

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

Pulmonar-NGS

R$ 2.790,00 Prazo: 60 a 90 dias

Fibrose Cística
Agenesia de canal deferente
Pancreatite hereditária
Bronquiectasia idiopática

CFTR

CFTR-NGS

R$ 1.390,00 Prazo: 60 a 90 dias

Gene único a partir de lista customizada de 6700 genes: sequenciamento

Genes únicos de lista customizada a partir de contato médico com laboratório

GeneÚnico-NGS

R$ 1.990,00 Prazo: 60 a 90 dias

Hipolactasia adulta (Intolerância à lactose)

MCM6 C/T(-13910)

MCM6-MUT

R$ 990,00 Prazo: 15 dias

Miopatias e distrofias musculares: sequenciamento - 208 genes

ACAD9, ACADM, ACADVL, ACTA1, ADAMTS10, AGL, AGRN, ALDOA, ANO5, ANTXR2, AR, ASXL1, B3GALNT2, B4GAT1 (B3GNT1), BAG3, BIN1, CACNA1S, CAPN3, CAV3, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CNBP, CNTNAP1, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRLF1, CRYAB, DAG1, DES, DMD, DMPK, 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, GLE1, GMPPB, GNE, GYG1, GYS1, HADHA, HADHB, HSPB1, HSPB8, HSPG2, HTRA2, INPP5K, IRF6, ISCU, ISPD, ITGA7, KAT6B, KBTBD13, KIAA1109, KLHL40, KLHL41, KLHL7, LAMA2, LAMP2, LARGE1 (LARGE), LDB3, LDHA, LGI4, LMNA, LMOD3, LPIN1, LRP4, 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 (GTDC2), POMK, POMT1, POMT2, POR, PRG4, PRKAG2, PYGM, RAPSN, RBCK1, RIPK4, RRM2B, RYR1, SCARF2, SCN4A, SELENON (SEPN1), SGCA, SGCB, SGCD, SGCG, SIL1, SKI, SLC22A5, SLC25A4, SLC5A7, SMAD3, SMAD4, SPEG, SQSTM1, STAC3, STIM1, SUCLA2, SYNE1, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TIA1, TK2, TMEM5, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TSEN54, TSFM, TTN, TYMP, UBA1, VCP, VIPAS39, VMA21, VPS33B, ZC4H2 e ZMPSTE24

Miopatia-NGS

R$ 2.790,00 Prazo: 60 a 90 dias

Painel de genes customizado: sequenciamento

Lista de genes customizada a partir de contato médico com laboratório

Custom-NGS

R$ 2.790,00 Prazo: 60 a 90 dias

Painel para câncer hereditário: sequenciamento e deleções/duplicações (MLPA apenas para BRCA1 e BRCA2)

AIP, ALK, APC, ATM, BAP1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CYLD, DDB2, DICER1, DIS3L2, EGFR, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GATA2, GPC3, HNF1A, HRAS, KIT, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NSD1, PALB2, PHOX2B, PMS1, PMS2, PPM1D, PRF1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA e XPC

Cancer-NGS-MLPA

R$ 2.990,00 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)

Auditivo-NGS

R$ 2.790,00 Prazo: 60 a 90 dias