Desenv-NGS

Distúrbios de neurodesenvolvimento: sequenciamento - 1088 genes

Painel ampliado para a investigação de genes previamente previamente associados a síndrome de Rubinstein-Taybi, síndrome de Cornelia de Lange , síndrome de Sotos, síndomes de hipercrescimento, síndrome de Xia-Gibbs, síndrome de Coffin-Siris, síndrome de Bardet-Biedl, e outras síndromes associadas a distúrbios de neurodesenvolvimento.

AAAS, AARS, AASS, ABCC9, ABCD1, ABCD4, ABHD5, ACAD9, ACADM, ACADS, ACO2, ACOX1, ACSL4, ACTB, ACTG1, ACTL6A, ACTL6B, ACY1, ADAR, ADAT3, ADGRG1 (GPR56), ADK, ADNP, ADSL, AFF2, AFF4, AFG3L2, AGA, AGPS, AHDC1, AHI1, AIFM1, AIMP1, AKT1, AKT3, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG3, ALG6, ALG8, ALKBH8, ALMS1, AMER1, AMPD2, AMT, ANKH, ANKRD11, AP1S1, AP1S2, AP2M1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APOPT1, ARCN1, ARFGEF2, ARG1, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARMC9, ARSA, ARSB, ARSE, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD3A, ATIC, ATL1, ATM, ATN1, ATP13A2, ATP1A1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1B2, ATP7A, ATP8A2, ATR, ATRX, AUH, AUTS2, B3GALNT2, B3GLCT (B3GALTL), B4GALNT1, B4GALT7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCS1L, BLM, BMP4, BOLA3, BPTF, BRAF, BRAT1, BRD4, BRF1, BRPF1, BRSK2, BRWD3, BSCL2, BTD, BUB1B, C12orf4, C12orf57, C12orf65, C5orf42, CA2, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CAD, CAMK2A, CAMK2B, CAMTA1, CARS, CASK, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC22, CCDC47, CCDC88C, CCND2, CDC42, CDC6, CDH11, CDH15, CDK10, CDK13, CDK5RAP2, CDK8, CDKL5, CDKN1C, CDON, CENPF, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP57, CEP83, CHAMP1, CHD2, CHD3, CHD4, CHD7, CHD8, CHKB, CHMP1A, CIC, CIT, CKAP2L, CLCN4, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLTC, CNKSR2, CNNM2, CNOT1, CNOT2, CNOT3, CNTNAP2, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL4A1, COL4A2, COL4A3BP, COLEC11, COQ4, COQ8A (ADCK3), COX10, COX15, COX6B1, CPS1, CRADD, CRB2, CREBBP, CSDE1, CSNK2A1, CSNK2B, CSPP1, CSTB, CTBP1, CTC1, CTCF, CTDP1, CTNNA2, CTNNB1, CTSA, CTSD, CUL4B, CUX1, CUX2, CWC27, CWF19L1, CYB5R3, CYC1, CYFIP2, CYP2U1, D2HGDH, DAG1, DARS, DARS2, DBT, DCAF17, DCHS1, DCPS, DCX, DDC, DDHD2, DDOST, DDX11, DDX3X, DDX59, DDX6, DEAF1, DEGS1, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHTKD1, DHX30, DIAPH1, DIS3L2, DKC1, DLD, DLG3, DLG4, DMD, DMXL2, DNAJC12, DNAJC19, DNM1, DNMT3A, DNMT3B, DOCK3, DOCK6, DOCK7, DOCK8, DOLK, DPAGT1, DPF2, DPH1, DPM1, DPP6, DPYD, DYM, DYNC1H1, DYRK1A, EBF3, EBP, EED, EEF1A2, EFTUD2, EHMT1, EIF2AK3, EIF2S3, EIF3F, EIF4A3, ELAC2, ELOVL4, ELP2, EMC1, EML1, EMX2, EP300, EPG5, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC6L2, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXTL3, EZH2, FA2H, FAM111A, FAM126A, FAM20C, FAR1, FARS2, FAT4, FBXL3, FBXL4, FBXO11, FBXW11, FGD1, FGF12, FH, FIG4, FKRP, FKTN, FLNA, FLVCR1, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FOXRED1, FRMPD4, FTCD, FTSJ1, FUCA1, FUT8, GABBR2, GABRA1, GABRA2, GABRA5, GABRB2, 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, GNAI1, GNAO1, GNAS, GNB1, GNB5, GNPAT, GNPTAB, GNPTG, GNS, GPAA1, GPC3, GPSM2, GPT2, GRIA2, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM1, GTF2H5, GTPBP2, GTPBP3, GUSB, HACE1, HADH, HADHA, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HECW2, HEPACAM, HERC1, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIST1H1E, HIVEP2, HK1, HLCS, HMGCL, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HOXA1, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HTRA2, HUWE1, HYLS1, IARS, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT172, IGF1, IGF1R, IKBKG, IL1RAPL1, INPP5E (PMPCA), INPP5K, INTS1, IQSEC2, IRF2BPL, IRX5, ISPD, ITPA, ITPR1, IVD, JAM3, KANSL1, KARS, KAT6A, KAT6B, KCNA2, KCNB1, KCNC1, KCNC3, KCNH1, KCNJ10, KCNJ11, KCNJ6, KCNK9, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM1A, KDM5B, KDM5C, KDM6A, KIAA0586, KIAA1109, KIDINS220, KIF11, KIF14, KIF1A, KIF1BP (KIAA1279), KIF2A, KIF5A, KIF5C, KIF7, KLHL7, KMT2A, KMT2C, KMT2D, KMT2E, KMT5B, KNL1 (CASC5), KPTN, KRAS, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1 (LARGE), LARP7, LGI4, LIG4, LINS1(LINS), LONP1, LRP2, LRPPRC, LZTR1, MAB21L1, MAB21L2, MACF1, MAF, MAGEL2, MAN1B1, MAN2B1, MAN2C1, MANBA, MAOA, MAP2K1, MAP2K2, MAPK8IP3, MASP1, MAST1, MAT1A, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCM3AP, MCOLN1, MCPH1, MDH2, MECP2, MED12, MED13L, MED17, MED23, MED25, MEF2C, MEIS2, METTL23, MFF, MFSD8, MGAT2, MGP, MICU1, MID1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPLKIP, MRPS22, MRPS34, MSL3, MSMO1, MTFMT, MTHFR, MTO1, MTOR, MTR, MTRR, MUT, MVK, MYCN, MYO5A, MYT1L, NAA10, NAA15, NACC1, NAGA, NAGLU, NALCN, NANS, NBEA, NDE1, NDP, NDST1, NDUFA1, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NEXMIF(KIAA2022), NF1, NFASC, NFIA, NFIB, NFIX, NFU1, NGLY1, NHS, NIPBL, NKAP, NKX2-1, NLGN3, NONO, NPC1, NPC2, NPHP1, NR2F1, NRAS, NRXN1, NSD1, NSD2, NSDHL, NSUN2, NT5C2, NTNG2, NTRK1, NTRK2, NUBPL, OCLN, OCRL, ODC1, OFD1, OGT, OPA3, OPHN1, OSGEP, OTC, OTUD6B, OTX2, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PARN, PAX6, PAX8, PBX1, PC, PCCA, PCCB, PCDH12, PCDH19, PCGF2, PCNT, PCYT2, 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, PHACTR1, PHF21A, PHF6, PHF8, PHGDH, PHIP, PIGA, PIGB, PIGG, PIGL, PIGN, PIGO, PIGT, PIGU, PIGV, PIGW, PIK3CA, PIK3R2, PITRM1, PLA2G6, PLAA, PLCB1, PLK4, PLP1, PLPBP, PMM2, PMPCB, PNKP, PNPLA6, POGZ, POLA1, POLG, POLR2A, POLR3A, POLR3B, POMGNT1, POMGNT2(GTDC2), POMT1, POMT2, PORCN, POU3F3, PPM1D, PPP1CB, PPP1R15B, PPP1R21, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRKD1, PRMT7, PRODH, PRPS1, PRR12, PRSS12, PRUNE1, PSAP, PSMD12, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTF1A, PTPN11, PTPN23, PTS, PUF60, PURA, PUS1, PUS3, PUS7, PYCR1, PYCR2, QARS, QDPR, QRICH1, RAB11B, RAB18, RAB23, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAC3, RAD21, RAF1, RAI1, RALA, RARB, RARS2, RASA1, RBBP8, RBM10, RELN, RERE, RFT1, RHOBTB2, RIT1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, ROGDI, ROR2, RORA, RPGRIP1L, RPIA, RPL10, RPS6KA3, RRM2B, RTEL1, RTN4IP1, RTTN, SAMD9, SAMHD1, SATB2, SC5D(SC5DL), SCAPER, SCN1A, SCN2A, SCN3A, SCN8A, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SEPSECS, SERAC1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SGPL1, SGSH, SHANK2, SHANK3, SHH, SHOC2, SIK1, SIL1, SIN3A, SIX3, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC39A14, SLC39A8, SLC46A1, SLC4A4, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A8, SLC6A9, SLC9A6, SLX4, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMOC1, SMPD1, SMPD4, SMS, SNAP25, SNAP29, SNRPB, SNX14, SON, SOS1, SOS2, SOX10, SOX11, SOX2, SOX3, SOX4, SOX5, SOX9, SPART, SPATA5, SPECC1L, SPG11, SPR, SPRED1, SPTAN1, SPTBN2, SRCAP, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STIL, STRA6, STRADA, STX1B, STXBP1, SUCLG1, SUMF1, SUOX, SURF1, SUZ12, SVBP, SYN1, SYNGAP1, SYNJ1, SYP, SYT1, SZT2, TAF1, TAF6, TANGO2, TAOK1, TAT, TAZ, TBC1D20, TBC1D23, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TCF20, TCF4, TCN2, TCTN2, TDP2, TECPR2, TELO2, TGIF1, TH, THOC2, THOC6, THRA, TIMM50, TLK2, TMCO1, TMEM165, TMEM216, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TMEM94, TMTC3, TMX2, TOE1, TPP1, TRAF7, TRAIP, TRAPPC12, TRAPPC6B, TRAPPC9, TREX1, TRIM32, TRIM8, TRIO, TRIP12, TRIT1, TRMT1, TRMT10A, TRRAP, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSPAN7, TTC19, TTC37, TTC8, TTI2, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP6, TUSC3, TWIST1, UBA5, UBE2A, UBE3A, UBE3B, UBR1, UBTF, UFM1, UMPS, UNC80, UPF3B, UROC1, USP9X, VAMP1, VAMP2, VARS, VARS2, VLDLR, VPS13B, VPS53, VRK1, WAC, WARS2, WASF1, WDPCP, WDR26, WDR37, WDR45, WDR45B, WDR62, WDR73, WDR81, WWOX, XRCC4, YWHAG, YY1, ZBTB18, ZBTB20, ZBTB24, ZC4H2, ZDHHC9, ZEB2, ZFYVE26, ZIC2, ZMIZ1, ZMYND11, ZNF142, ZNF462, ZNF711, ZSWIM6

40503801

40 a 60 dias úteis

Sob consulta