NeoPainel para Displasias Esqueléticas

Investigação genética de Displasias Esqueléticas por NeoPainel, com análise direcionada baseada em exoma.

Aplicações

Doenças raras e hereditárias

Amostras aceitas

Sangue periférico (preferencial), Swab bucal, DNA extraído

Prazo estimado

Tradicional · 30 dias corridos, após a aceitação da amostra Rápido · 15 dias corridos, após a aceitação da amostra

Método-base

Exoma

Escopo analítico

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Genes analisados

671 genes analisados.

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ABCC9, ABL1, ACAN, ACP5, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, ADAMTSL2, ADGRV1, ADI1, AFF3, AFF4, AGA, AGPS, AHI1, AIFM1, AIPL1, AKT1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARCN1, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL6, ARSB, ARSL, ASCC1, ASPM, ASXL1, ASXL2, ATP6V0A2, ATP7A, ATR, ATRIP, ATXN10, B3GALT6, B3GAT3, B4GALT7, B9D1, B9D2, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC134, CCDC28B, CCDC39, CCDC40, CCDC8, CCN6, CCNQ, CD96, CDC45, CDC6, CDH23, CDH3, CDK5RAP2, CDKN1C, CDT1, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP63, CFAP410, CFTR, CHST11, CHST14, CHST3, CHSY1, CHUK, CILK1, CKAP2L, CLCN5, CLCN7, CLRN1, COG1, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL27A1, COL2A1, COL5A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, CPAP, CPLANE1, CRB1, CREB3L1, CREBBP, CRELD1, CRIPT, CRTAP, CRX, CSF1R, CSGALNACT1, CSPP1, CTNS, CTSA, CTSC, CTSK, CUL7, CWC27, CYP26B1, CYP27B1, CYP2R1, DACT1, DCC, DDR2, DDRGK1, DHCR24, DHODH, DIP2C, DIS3L2, DLL1, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DNMT3A, DOCK6, DOLPP1, DONSON, DPM1, DPM2, DPM3, DSE, DSPP, DVL1, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EDNRA, EED, EFNB1, EFTUD2, EHHADH, EIF2AK3, ENPP1, EOGT, EP300, ERF, ESCO2, ESR1, ETF1, EVC, EVC2, EXOC6B, EXOSC2, EXT1, EXT2, EXTL3, EZH2, FAH, FAM111A, FAM20B, FAM20C, FAR1, FAT4, FBLIM1, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGF10, FGF16, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FMN1, FN1, FNDC3B, FOXC1, FOXH1, FTO, FUCA1, FZD2, GALNS, GALNT3, GDF1, GDF3, GDF5, GDF6, GHR, GHRHR, GHSR, GJA1, GLB1, GLI1, GLI3, GLIS2, GMNN, GNAS, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GREM1, GSC, GUCY2D, GUSB, GZF1, HDAC4, HDAC5, HDAC6, HDAC8, HES7, HGSNAT, HNF4A, HNRNPA1, HNRNPA2B1, HNRNPK, HOXA11, HOXA13, HOXD11, HOXD13, HPGD, HSPG2, HYAL1, HYLS1, IARS2, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT54, IFT57, IFT74, IFT80, IFT81, IFT88, IGF1, IGF1R, IGF2, IHH, IKBKG, IL11RA, IL1RN, IMPDH1, INPPL1, INTU, INVS, IQCB1, IQCE, JAG1, KAT6A, KAT6B, KCNJ13, KCNT2, KDELR2, KIAA0586, KIAA0753, KIF22, KIF7, KMT2A, KMT2D, KYNU, LARP7, LBR, LCA5, LEFTY2, LEMD3, LFNG, LIFR, LIG4, LMBR1, LMNA, LMX1B, LONP1, LOXL3, LPIN2, LRAT, LRP4, LRP5, LRP6, LRRK1, LTBP2, LTBP3, MAFB, MAN2B1, MAN2C1, MANBA, MAP3K20, MAP3K7, MASP1, MATN3, MBTPS1, MBTPS2, MCM3, MCM5, MCM7, MCPH1, MECOM, MEGF8, MEOX1, MESD, MESP2, MGP, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MPDU1, MSX2, MTAP, MYCN, MYH3, MYO18B, MYO7A, MYT1, NAGLU, NANS, NBAS, NEK1, NEK8, NEU1, NF1, NFIX, NIN, NIPBL, NKX2-5, NKX3-2, NLRP3, NME8, NODAL, NOG, NOTCH1, NOTCH2, NPHP1, NPHP3, NPHP4, NPPC, NPR2, NPR3, NSD1, NSDHL, NSMCE2, NT5E, NTRK1, NUDT6, NXN, OAT, OBSL1, OCRL, OFD1, ORC1, ORC4, ORC6, OSTM1, PAM16, PAPSS2, PAX3, PCARE, PCDH15, PCGF2, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PGM3, PHEX, PHF6, PHGDH, PHLDB1, PIGT, PIGV, PIK3C2A, PIK3CA, PIK3R1, PIN1, PIR, PISD, PITX1, PKD2, PKDCC, PKHD1, PLEKHM1, PLK4, PLOD1, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, PORCN, PPIB, PPP3CA, PRG4, PRKAR1A, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PTPRQ, PUF60, PYCR1, RAB23, RAB33B, RAB3GAP2, RAD21, RASGRP2, RBBP8, RBM8A, RBPJ, RD3, RDH12, RECQL4, RFT1, RIGI, RIN1, RIPPLY2, RMRP, ROR2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPL13, RSPH4A, RSPH9, RSPO2, RSPRY1, RTTN, RUNX2, SALL1, SALL4, SBDS, SC5D, SCARF2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC23A, SEC24D, SEM1, SERPINF1, SERPINH1, SETBP1, SETD2, SF3B4, SFRP4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SIK3, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOST, SOX11, SOX9, SP7, SPARC, SPATA7, SPECC1L, SQSTM1, SRCAP, SUCO, SULF1, SUMF1, TAB2, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TDP2, TENT5A, TERT, TGDS, TGFB1, TGFB2, TGFBR1, TGFBR2, THPO, TMCO1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM256, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TONSL, TOPORS, TP63, TRAIP, TRAPPC2, TREM2, TRIM32, TRIM37, TRIP11, TRIP4, TRMT10A, TRPS1, TRPV4, TRPV6, TSC1, TSC2, TSLIG3C, TTC21B, TTC8, TUBGCP4, TUBGCP6, TULP1, TWIST1, TWIST2, TYROBP, UBE3B, UFSP2, UMOD, UNC45A, USH1C, USH1G, USH2A, USP9X, VAC14, VCP, VDR, VHL, VPS33A, WDPCP, WDR19, WDR35, WDR4, WHRN, WNT1, WNT10B, WNT3, WNT3A, WNT5A, WNT7A, WRN, XPNPEP3, XRCC4, XYLT1, XYLT2, YY1, ZBTB16, ZIC1, ZIC3, ZMPSTE24, ZNF141, ZNF423, ZNF687, ZSWIM6

Solicitação médica

Necessária