Foram encontrados 20 exames.
Doença(s) Gene / Região Código do Exame TUSS Valor / Prazo  
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
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 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
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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
Miopatia-NGS
40503801
R$ 2.790,00 Prazo: 60 a 90 dias
Ataxia-telangiectasia
susceptibilidade ao câncer de mama
ATM
ATM-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 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
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
TRPV4
TRPV4-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Distrofia muscular congênita (deficiência de merosina): sequenciamento
LAMA2
LAMA2-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Distrofia muscular congênita (deficiência de merosina): sequenciamento e deleções/duplicações
LAMA2
LAMA2-NGS-MLPA
40503801; 40503151
R$ 2.990,00 Prazo: 60 a 90 dias
Distrofia muscular de Emery-Dreifuss ligada ao X tipo 1
EMD
EMD-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Distrofia muscular de cinturas tipo 2A
CAPN3
CAPN3-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Distrofia muscular oculofaríngea
PABPN1
PABPN1-exp
-
R$ 990,00 Prazo: 60 a 90 dias
Doença de Charcot-Marie-Tooth ligada ao X tipo 1
GJB1
GJB1-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Doença de Charcot-Marie-Tooth tipo 1B
Doença de Dejerine-Sottas
Neuropatia congênita hipomielinizante
Doença de Charcot-Marie-Tooth tipo 2J
Doença de Charcot-Marie-Tooth tipo 2I
Doença de Charcot-Marie-Tooth intermediária tipo D
Síndrome de Roussy-Levy
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
MPZ
MPZ-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Doença de Charcot-Marie-Tooth tipo 2A2
Neuropatia motora e sensorial hereditária tipo VI
MFN2
MFN2-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Esclerose Lateral Amiotrófica tipo ELA8
Atrofia Espinhal Muscular de início tardio do tipo Finkel
VAPB
VAPB-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Miotonia Congênita
SCN4A e CLCN1
MIOT-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Miotonia congênita recessiva (Doença de Becker)
Miotonia congênita dominante (Doença de Thomsen)
CLCN1
CLCN1-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias
Paralisia periódica hipercalêmica tipo 2
Paralisia periódica hipocalêmica tipo 2
Paramiotonia congênita
Síndrome miastênica congênita tipo 16
Miotonia congênita atípica responsiva à acetazolamida
Chevron down d75adc5e2e88c2cada7ff765d58780c8b240e9798e0e3abbbe742b646d536881
SCN4A
SCN4A-NGS
40503801
R$ 1.390,00 Prazo: 60 a 90 dias

 

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