Foram encontrados 27 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
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
Esclerose Tuberosa tipo 2
TSC2
TSC2-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Esclerose tuberosa
TSC1 e TSC2
TSC1/2-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Esclerose tuberosa tipo 1
Displasia cortical focal de Taylor
TSC1
TSC1-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Fibromatose gengival tipo 1
Síndrome de Noonan tipo 4
SOS1
SOS1-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Neurofibromatose tipo 1
Neurofibromatose espinhal familial
Síndrome de Neurofibromatose-Noonan
Síndrome de Watson
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
NF1
NF1-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Neurofibromatose tipo 2
Schwannomatose
NF2
NF2-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Neurofibromatoses, Schwannomatose e Legius: sequenciamento
LZTR1, NF1, NF2 e SPRED1
NF-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Schwannomatose familial tipo 2
Síndrome de Noonan tipo 10
LZTR1
LZTR1-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome cardiofasciocutânea tipo 1
Síndrome de Noonan tipo 7
Síndrome LEOPARD tipo 3
BRAF
BRAF-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome cardiofasciocutânea tipo 3
MAP2K1
MAP2K1-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome cardiofasciocutânea tipo 4
MAP2K2
MAP2K2-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome de Alagille: sequenciamento e deleções/duplicações
JAG1
JAG1-NGS-MLPA
40503801; 40503151
R$ 3.090,00 Prazo: 60 a 90 dias
Síndrome de Costello
Síndrome faciocutaneoesquelética
HRAS
HRAS-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome de Cowden 1 (CWS1)
Síndrome de Lhermitte-Duclos
Síndrome de Bannayan-Riley-Ruvalcaba (BRRS)
Meningioma
Susceptibilidade a glioma 2 (GLM2)
Síndrome do autismo/ macrocefalia
Síndrome PTEN hamartoma tumor
VATER associação com macrocefalia e ventriculomegalia
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
PTEN
PTEN-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome de Legius
SPRED1
SPRED1-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome de Noonan tipo 1
Síndrome LEOPARD tipo 1
Metacondromatose
PTPN11
PTPN11-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome de Noonan tipo 3
Síndrome cardiofasciocutâneo tipo 2
KRAS
KRAS-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome de Noonan tipo 5
Síndrome LEOPARD tipo 2
Cardiomiopatia dilatada tipo 1NN
RAF1
RAF1-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome de Noonan tipo 6
NRAS
NRAS-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome de Noonan tipo 8
RIT1
RIT1-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome de Noonan tipo 9
SOS2
SOS2-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome de Rett: sequenciamento e deleções/duplicações
MECP2
MECP2-NGS-MLPA
40503801; 40503151
R$ 3.090,00 Prazo: 60 a 90 dias
Síndrome de Sotos tipo 1
NSD1
NSD1-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Síndrome de Sotos: sequenciamento e deleções/duplicações
NSD1
NSD1-NGS-MLPA
40503801; 40503151
R$ 2.490,00 Prazo: 60 a 90 dias
Síndrome de quebras de Nijmegen
NBN
NBN-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias

 

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