• (11) 3091-7966 / 3091-0878
  • (11) 94057-4021
  • genoma@ib.usp.br

Foram encontrados 159 exames.
Doença(s) Gene / Região Código do Exame TUSS Valor / Prazo  
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Anomalias-NGS
40503801
R$ 2.790,00 Prazo: 60 a 90 dias
Autismo: sequenciamento e deleções/duplicações - 115 genes
ADNP, ANK2, ANKRD11, AP2S1, ARID1B, ASH1L, ASXL3, BCKDK, BCL11A, CACNA1D, CACNA1E, CACNA1H, CACNA2D3, CELF4, CHD2, CHD8, CIC, CNOT3, CNTN4, CNTNAP2, CORO1A, CREBBP, CTNNB1, CTNND2, CUL3, CUX1, DDX3X, DEAF1, DIP2A, DIP2C, DNMT3A, DPYSL2, DSCAM, DYNC1H1, DYRK1A, FOXP1, FOXP2, GABRB3, GFAP, GIGYF2, GRIA1, GRIA2, GRIN2B, GRIP1, HDLBP, KATNAL2, KCNMA1, KCNQ3, KDM5B, KDM6A, KDM6B, KIAA0232, KMT2A, KMT2C, KMT2E, LDB1, MAGEL2, MAP1A, MBD5, MBOAT7, MECP2, MED13, MED13L, MET, MYT1L, NAA15, NCKAP1, NCOA1, NLGN3, NR3C2, NRXN1, NSD1, NUP155, PAX5, PHF2, PHF21A, PHF3, POGZ, PPP2R5D, PTCHD1, PTEN, PTK7, RELN, RFX3, RIMS1, SCN1A, SCN2A, SCN9A, SETD5, SHANK2, SHANK3, SKI, SLC6A1, SMARCC2, SPAST, SRCAP, STXBP1, SUV420H1, SYNGAP1, TBL1XR1, TBR1, TCF4, TCF7L2, TEK, TNRC6B, TRAF7, TRIO, TRIP12, UBN2, UBR1, UPF3B, USP15, USP7, WAC, WDFY3
Autismo-NGS-versão2.0
40503801
R$ 3.390,00 Prazo: 60 a 90 dias
Câncer de mama e ovário familial tipo 1
Susceptibilidade ao câncer pancreático
BRCA1
BRCA1-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Câncer de mama e ovário familial tipo 2
Anemia de Fanconi grupo de complementação D1
Câncer de Prostata
BRCA2
BRCA2-NGS
40503801
R$ 1.390,00 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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Cancer-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Distrofia muscular do tipo Duchenne
Distrofia muscular do tipo Becker
Distrofinopatia: deleções/duplicações
DMD
DMD-MLPA
40503151
R$ 1.990,00 Prazo: 60 dias
Distrofia muscular do tipo Duchenne
Distrofia muscular do tipo Becker
Distrofinopatia: sequenciamento
DMD
DMD-NGS
40503801
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Desenv-NGS
40503801
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
40503054
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Cardio-NGS
40503801
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Encefalo-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 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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Cranio-NGS
40503801
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
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 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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
NeuroA-NGS
40503801
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
NeuroB-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
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
40503801
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
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Miopatia-NGS
40503801
R$ 2.790,00 Prazo: 60 a 90 dias
Osteogênese imperfeita associada à COLA1/2: sequenciamento
COL1A1 e COL1A2
COL1A1/2-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Painel de genes customizado: sequenciamento
Lista de genes customizada a partir de contato médico com laboratório
Custom-NGS
40503801
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
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Cancer-NGS-MLPA
40503801; 40503151
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)
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Auditivo-NGS
40503801
R$ 2.790,00 Prazo: 60 a 90 dias
Acondrogênese tipo II ou hipocondrogênese
Necrose avascular da cabeça femoral
Doença checa
Displasia epifisária múltipla com miopia e surdez
Displasia de Kniest
Doença de Legg-Calve-Perthes
Osteoartrite com condrodisplasia leve
Displasia otospondilomegaepifisária
Displasia esquelética platispondílica tipo Torrance
Displasia espondiloepifisária congênita
Displasia espondiloepifisária tipo Namaqualand
Displasia espondilometaepifisária tipo Strudwick
Displasia espondiloepifisária tipo Stanescu
Displasia espondiloperiférica
Síndrome de Stickler tipo I
Vitreorretinopatia com displasia epifisáriafalangiana
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COL2A1
COL2A1-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Acondroplasia
Hipocondroplasia
Displasia tanatofórica tipo I
Síndrome de Crouzon com acanthosis nigricans
Síndrome Muenke
Síndrome de LADD
Síndrome CATSHL
Displasia tanatofórica tipo II
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FGFR3
FGFR3-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Adenomas colorretais múltiplos
Polipose adenomatosa familial
Polipose autossômica recessiva
MUTYH
MUTYH-NGS
40503801
R$ 1.390,00 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
Anemia de Fanconi grupo de complementação N
Susceptibilidade a câncer de mama
Susceptibilidade a câncer de pâncreas
PALB2
PALB2-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Anemia de Fanconi grupo de complementação O
Susceptibilidade a câncer de mama-ovário familial 3
RAD51C
RAD51C-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Ataxia de Friedreich: análise de repetições GAA
FXN
FRDA-exp
R$ 700,00 Prazo: 45 dias
Ataxia espinocerebelar tipo 1: análise de repetições CAG
ATXN1
SCA1-exp
R$ 550,00 Prazo: 45 dias
Ataxia espinocerebelar tipo 2: análise de repetições CAG
ATXN2
SCA2-exp
R$ 550,00 Prazo: 45 dias
Ataxia espinocerebelar tipo 3: análise de repetições CAG
ATXN3
SCA3-exp
R$ 550,00 Prazo: 45 dias
Ataxia espinocerebelar tipo 6: análise de repetições CAG
CACNA1A
SCA6-exp
R$ 550,00 Prazo: 45 dias
Ataxia espinocerebelar tipo 7: análise de repetições CAG
ATXN7
SCA7-exp
R$ 550,00 Prazo: 45 dias
Ataxia espinocerebelar: teste estendido - análise de repetições CAG
Ataxia espinocerebelar tipo 1
Ataxia espinocerebelar tipo 2
Ataxia espinocerebelar tipo 3
Ataxia espinocerebelar tipo 6
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ATXN1, ATXN2, ATXN3 e CACNA1A
Painel SCA-exp
R$ 1.650,00 Prazo: 45 dias
Ataxia-telangiectasia
susceptibilidade ao câncer de mama
ATM
ATM-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Atraso de desenvolvimento neuropsicomotor e anomalias congênitas: deleções/duplicações
Regiões subteloméricas de todos os cromossomos (inclui síndrome da deleção 4p e outras)
TCM-SUB-MLPA
40503151
R$ 1.990,00 Prazo: 45 dias


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