Anomalias-NGS

Anomalias congênitas múltiplas - sequenciamento - 456 genes

Painel ampliado para a investigação de genes previamente associados a síndromes com dismorfismos e anomalias congênitas: síndrome de Kabuki, síndrome de Treacher-Collins, síndrome de Joubert, síndrome de Bardet-Biedl, discinesia ciliar primária (ciliopatias), fibrose cística, xeroderma pigmentoso (XP), síndrome de Cockayne, doenças XP-like, fenda lábio-palatina não síndrômica familial, fenda lábio-palatina síndrômica, RASopatias (síndrome de Legius, síndrome de LEOPARD, síndrome de Costello, síndrome cardio-facio-cutânea, síndrome de Noonan, síndrome de Noonan plus), síndrome de Sotos, doença de Niemann-Pick, síndrome de Cornelia de Lange, síndrome de síndrome de Simpson-Golabi-Behmel, síndrome de Weaver, síndrome CHARGE, síndrome auriculocondilar, entre outras.

ACTB, ACTG1, AHI1, ALMS1, AMER1, ANKRD11, ANKS6, AP1S1, AP3B1, APC2, ARHGAP29, ARHGAP31, ARL13B, ARL3, ARL6, ARMC4, ARMC9, ASAH1, ASPM, ASXL1, ASXL3, ATR, ATRX, B3GLCT, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BLM, BMP2, BRAF, BRCA2, BRIP1, BRWD3, C21orf2, C2CD3, C8orf37, CASK, CBL, CC2D2A, CCBE1, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CDH1, CDK5RAP2, CDKN1C, CDT1, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP63, CEP83, CFAP298, CFAP300, CFTR, CHD3, CHD4, CHD7, CHRNG, CHST14, CKAP2L, COL11A1, COL11A2, COL2A1, COL9A1, COLEC10, COLEC11, CPLANE1, CRB2, CREBBP, CSPP1, CTCF, CTNNB1, CTNND1, CTSA, DDB2, DDX11, DDX59, DHCR7, DHODH, DIAPH1, DLL4, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DNMT3A, DOCK6, DPP6, DRC1, DVL1, DVL3, DYNC2H1, DYNC2LI1, DYRK1A, EBP, EDN1, EDNRA, EFNB1, EFTUD2, EIF2S3, EIF4A3, EOGT, EPG5, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, EVC, EVC2, EYA1, EZH2, FAM149B1, FAM20C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FGD1, FGF10, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, FLT4, FOXC2, FOXJ1, FOXP3, FRAS1, GALNS, GAS2L2, GAS8, GBA, GBE1, GJA1, GLA, GLB1, GLI2, GLI3, GNA13, GNAI3, GNPTAB, GPC3, GRHL3, GTF2H5, GUSB, HBA1, HBA2, HDAC8, HNF1B, HOXA13, HRAS, HYDIN, HYLS1, ICK, IER3IP1, IFT122, IFT140, IFT172, IFT27, IFT74, IFT80, IGF1, IGF1R, IMPAD1, INPP5E, INVS, IQCB1, IRF6, KAT6A, KCNH1, KCNJ2, KDM6A, KIAA0586, KIF11, KIF1BP, KIF7, KLF1, KMT2D, KNL1, KRAS, KYNU, LAMP2, LARP7, LBR, LIG4, LIPA, LMBR1, LRRC56, LRRC6, LYST, LZTFL1, LZTR1, MAP2K1, MAP2K2, MAP3K7, MAPRE2, MASP1, MBTPS2, MCIDAS, MCPH1, MEIS2, MFSD2A, MID1, MKKS, MKS1, MLPH, MPLKIP, MRAS, MSMO1, MSX1, MYCN, MYMK, MYO5A, NBN, NDE1, NECTIN1, NEDD4L, NEK1, NEK10, NEK8, NEU1, NF1, NF2, NFIX, NHEJ1, NIPBL, NME8, NOTCH1, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NRAS, NSD1, OFD1, ORC1, ORC4, ORC6, PALB2, PAX3, PCNT, PDE6D, PDHA1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHF8, PIBF1, PIEZO1, PIEZO2, PIGN, PIGV, PIH1D3, PIK3CD, PKD1, PKD2, PKHD1, PLCB4, PLK4, PMM2, PNKP, POC1A, POLH, POLR1B, POLR1C, POLR1D, PORCN, PPP1CB, PQBP1, PTCH1, PTEN, PTPN11, PUF60, RAB27A, RAD21, RAF1, RBBP8, RBM10, RBM8A, RECQL4, RIT1, RNASE3, ROR2, RPGR, RPGRIP1L, RPL10, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RRAS2, RSPH1, RSPH3, RSPH4A, RSPH9, RTTN, SALL1, SALL4, SATB2, SBDS, SCARF2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEMA3E, SEPT9, SF3B4, SHH, SHOC2, SHOX, SIL1, SIX1, SIX3, SIX5, SKI, SLC17A5, SLC25A19, SLC26A2, SLC9A6, SLX4, SMAD3, SMAD4, SMC1A, SMC3, SMPD1, SMS, SNAP29, SNRPB, SON, SOS1, SOS2, SOX9, SPAG1, SPECC1L, SPRED1, STAMBP, STIL, SUFU, TALDO1, TBX1, TBX22, TBX3, TBX5, TCOF1, TCTN1, TCTN2, TCTN3, TELO2, TFAP2A, TGDS, TGFB3, TGFBR1, TGFBR2, TMCO1, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOGARAM1, TOP3A, TP63, TRAF3IP1, TRAP1, TRAPPC9, TRIM32, TRIM37, TRMT10A, TTC12, TTC21B, TTC25, TTC8, TUBB, TUBGCP4, TUBGCP6, TXNL4A, UBE2T, USP9X, VPS13B, WDPCP, WDR19, WDR34, WDR35, WDR62, WDR73, WNT5A, WNT7A, XPA, XPC, XRCC4, XYLT1, ZEB2, ZIC2, ZIC3, ZMYND10, ZNF423, ZSWIM6

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