Displasias esqueléticas, painel de 391 genes

Código da Análise: 3209
Designação: Displasias esqueléticas, painel de 391 genes
Gene(s): ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGA, AGPS, AIFM1, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANO5, ANTXR2, APC2, ARHGAP31, ARID1B, ARSB, ARSE, ATP6V0A2, ATR, B3GALT6, B3GAT3, B4GALT7, BGN, BMP1, BMP2, BMPER, BMPR1B, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC8, CDC45, CDC6, CDH3, CDKN1C, CDT1, CENPE, CEP120, CEP152, CEP290, CFAP410, CHST14, CHST3, CHSY1, CKAP2L, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CREBBP, CRIPT, CRTAP, CSF1R, CTSA, CTSK, CUL7, CYP27B1, CYP2R1, DDR2, DDX58, DHCR24, DHODH, DLL3, DLL4, DLX3, DLX5, DMP1, DNA2, DNAJC21, DNMT3A, DOCK6, DSE, DVL1, DVL3, DYM, DYNC2H1, DYNC2LI1, EBP, EDN1, EDNRA, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ENPP1, EOGT, EP300, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EZH2, FAM111A, FAM20C, FAM58A, FANCA, FANCC, FANCD2, FANCG, FAR1, FBLN1, FBN1, FBN2, FERMT3, FGF10, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FN1, FUCA1, FZD2, GALNS, GALNT3, GDF3, GDF5, GDF6, GJA1, GLB1, GLI3, GMNN, GNAI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GSC, GUSB, HDAC8, HES7, HGSNAT, HOXA11, HOXD13, HPGD, HRAS, HSPA9, HSPG2, IARS2, ICK, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT80, IFT81, IHH, IKBKG, IL1RN, IMPAD1, INPPL1, KAT6B, KCNJ2, KIAA0586, KIF22, KIF7, KYNU, LBR, LEMD3, LFNG, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LTBP2, LTBP3, MAFB, MAN2B1, MANBA, MAP2K1, MAP3K20, MATN3, MBTPS2, MECOM, MEGF8, MEOX1, MESP2, MGP, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MSX2, MTAP, MYCN, MYH3, MYO18B, NAGLU, NBAS, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPR2, NPR3, NRAS, NSD1, NSDHL, NSMCE2, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PAX3, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PHEX, PIGV, PITX1, PLCB4, PLEKHM1, PLOD1, PLOD2, PLS3, POLE, POLR1A, POLR1C, POLR1D, POLR3A, POP1, POR, PPIB, PRKAR1A, PTDSS1, PTH1R, PTHLH, PTPN11, PYCR1, RAB23, RAB33B, RAD21, RASGRP2, RBBP8, RBM8A, RBPJ, RECQL4, RIPPLY2, RMRP, RNU4ATAC, ROR2, RPGRIP1L, RSPRY1, RUNX2, SALL1, SALL4, SBDS, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SGSH, SH3BP2, SH3PXD2B, SHOX, SKI, SLC17A5, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SMAD3, SMAD4, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SNRPB, SNX10, SOST, SOX9, SP7, SPARC, SUMF1, SUZ12, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTEX1D2, TCTN3, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM165, TMEM216, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAF3IP1, TRAIP, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, UFSP2, VAC14, VANGL1, VDR, VPS33A, WDR19, WDR34, WDR35, WDR60, WISP3, WNT1, WNT10B, WNT3, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, ZMPSTE24, ZSWIM6
Especialidade: Diagnóstico Pré-Natal, Obstetrícia, Pediatria
Método: Sequenciação massiva (NGS)
Condições de Colheita: Amostra biológica (liq. Amniótico, sg total EDTA)
Estabilidade da Amostra: Refrigerada a 2-8ºC
Preparação da Colheita: ATENÇÃO: Esta análise só deve ser colhida entre 2ª e 5ª feira e nunca em vésperas de feriado
Prazo Entrega: 33 Dias úteis