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

Foram encontrados 121 exames.
Doença(s) Gene / Região Código do Exame 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
R$ 2.790,00 Prazo: 60 a 90 dias
Distrofia muscular do tipo Duchenne
Distrofia muscular do tipo Becker
Distrofinopatia: deleções/duplicações
DMD
DMD-MLPA
R$ 1.990,00 Prazo: 60 dias
Distrofia muscular do tipo Duchenne
Distrofia muscular do tipo Becker
Distrofinopatia: sequenciamento
DMD
DMD-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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Pulmonar-NGS
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
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
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Miopatia-NGS
R$ 2.790,00 Prazo: 60 a 90 dias
Osteogênese imperfeita associada à COLA1/2: sequenciamento
COL1A1 e COL1A2
COL1A1/2-NGS
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
R$ 2.790,00 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
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
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
R$ 1.390,00 Prazo: 60 a 90 dias
Anemia de Fanconi grupo de complementação A
FANCA
FANCA-NGS
R$ 1.390,00 Prazo: 60 a 90 dias
Anemia de Fanconi grupo de complementação C
FANCC
FANCC-NGS
R$ 1.390,00 Prazo: 60 a 90 dias
Anemia de Fanconi grupo de complementação D2
FANCD2
FANCD2-NGS
R$ 1.390,00 Prazo: 60 a 90 dias
Anemia de Fanconi grupo de complementação E
FANCE
FANCE-NGS
R$ 1.390,00 Prazo: 60 a 90 dias
Anemia de Fanconi grupo de complementação F
FANCF
FANCF-NGS
R$ 1.390,00 Prazo: 60 a 90 dias
Anemia de Fanconi grupo de complementação G
FANCG
FANCG-NGS
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
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
R$ 1.990,00 Prazo: 45 dias
Atrofia espinhal progressiva (AEP): deleções/duplicações
SMN1 e SMN2
AEP-MLPA
R$ 1.290,00 Prazo: 45 dias
Braquiolmia tipo 3
Displasia espondilometafisária tipo Kozlowski
Displasia Metatrópica
Neuropatia motora e sensorial hereditária tipo IIC
Atrofia muscular espinhal escapuloperoneal
Nanismo Parastremático
Displasia espondiloepifisária tipo Maroteaux
Atrofia muscular espinhal distal congênita não-progressiva
Artropatia-braquidactilia digital familial
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TRPV4
TRPV4-NGS
R$ 1.390,00 Prazo: 60 a 90 dias
Complexo de Carney tipo 1
Acrodisostose tipo 1 com ou sem resistência hormonal
Doença adrenocortical nodular pigmentar primária tipo 1
PRKAR1A
PRKAR1A-NGS
R$ 1.390,00 Prazo: 60 a 90 dias
Craniossinostose tipo 3
TCF12
TCF12-NGS
R$ 1.390,00 Prazo: 60 a 90 dias
Craniossinostose tipo 4
ERF
ERF-NGS
R$ 1.390,00 Prazo: 60 a 90 dias
Câncer de mama e ovário hereditário: BRCA1 e BRCA2 - deleções/duplicações
BRCA1 e BRCA2
BRCA1/2-MLPA
R$ 1.990,00 Prazo: 60 dias
Deficiência de biotinidase
BTD
BTD-NGS
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
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SLC26A2
SLC26A2-NGS
R$ 1.390,00 Prazo: 60 a 90 dias


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