Exames Genéticos > Cranio-NGS Voltar
 
 
Código
Cranio-NGS
Doença(s)
Doenças esqueléticas / craniofaciais / doenças do tecido conectivo: sequenciamento - 409 genes
Gene / Região
ABCC6, ABCC9, ABL1, ACAN, ACP5, ACVR1, ADAMTS2, ADAMTSL2, AEBP1, AGA, AGPS, ALDH18A1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMBN, AMELX, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARSB, ARSE, ASXL1, ATP6V0A2, ATP7A, B3GALT6, B3GAT3, B4GALT7, B9D1, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, C1R, C1S, C21orf2, C2CD3, C4orf26, CA2, CANT1, CASR, CBS, CC2D2A, CCDC8, CDH3, CDKN1C, CDT1, CEP120, CEP290, CHD7, CHST14, CHST3, CHSY1, CLCN5, CLCN7, CNNM4, COL10A1, COL11A1, COL11A2, COL12A1, COL17A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COLEC11, COMP, CREB3L1, CREBBP, CRTAP, CSPP1, CTSA, CTSC, CTSK, CUL7, CYP27B1, DDR2, DHCR24, DHODH, DIS3L2, DLL3, DLL4, DLX3, DLX5, DMP1, DNMT3A, DOCK6, DPM1, DSE, DVL1, DYM, DYNC2H1, EBP, EDN1, EFEMP2, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ELN, ENAM, ENPP1, EOGT, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20C, FAM58A, FAM83H, FBLN5, FBN1, FBN2, FERMT3, FGF10, FGF16, FGF23, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FOXE1, FUCA1, GALNS, GALNT3, GDF5, GDF6, GGCX, GHR, GJA1, GLB1, GLI2, GLI3, GNA13, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPR68, GPX4, GSC, GUSB, HDAC4, HDAC8, HES7, HGSNAT, HOXA13, HOXD13, HPGD, HSPG2, HYLS1, ICK, IDH1, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT80, IHH, IKBKG, IL11RA, IL1RN, IMPAD1, INPPL1, ITGB6, KAT6A, KIF22, KIF7, KLK4, KMT2D, KRAS, LAMA3, LAMB3, LBR, LEMD3, LIFR, LMBR1, LMNA, LMX1B, LONP1, LOX, LPIN2, LRP4, LRP5, LTBP3, LTBP4, MAFB, MAN2B1, MATN3, MEGF8, MEOX1, MESP2, MGP, MKS1, MMP13, MMP2, MMP20, MNX1, MPDU1, MSX2, MYCN, NAGLU, NEK1, NEU1, NF1, NFIX, NIN, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPR2, NSD1, NSDHL, OBSL1, OFD1, ORAI1, ORC1, ORC4, ORC6, OSTM1, P3H1 (LEPRE1), PAPSS2, PCNT, PCYT1A, PDE4D, PEX1, PEX5, PEX6, PEX7, PGM3, PHEX, PHGDH, PIGT, PIGV, PIK3R1, PITX1, PLCB4, PLOD1, PLOD2, PLS3, POC1A, POLR1C, POLR1D, POP1, POR, PPIB, PRDM5, PRKAR1A, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RASGRP2, RBM8A, RBPJ, RECQL4, RFT1, RIN2, RMRP, RNU4ATAC, ROBO3, ROGDI, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SBDS, SCARF2, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SGSH, SH3BP2, SH3PXD2B, SHOX, SKI, SLC13A5, SLC17A5, SLC24A4, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCAL1, SMC1A, SMC3, SMO, SMOC1, SNRPB, SNX10, SOST, SOX9, SP7, SPARC, SPINT2, STAT3, STIM1, SUMF1, TALDO1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN2, TCTN3, TERT, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THPO, TMCO1, TMEM165, TMEM216, TMEM231, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TWIST2, TXNL4A, TYROBP, USP9X, WDR19, WDR34, WDR35, WDR60, WDR72, WISP3, WNT1, WNT10B, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, YY1, ZEB2, ZIC1, ZMPSTE24 e ZNF469
TUSS
40503801
Prazo de entrega
60 a 90 dias
Preço
R$ 2.790,00

Como solicitar o exame?


  • Entre em contato conosco por e-mail.
  • O médico e o paciente devem preencher os seguintes formulários:
    • Formulário para Diagnóstico Molecular - Fazer download
    • Termo de consentimento geral - Fazer download
    • Instrução para coleta - individual - 2017 - Fazer download
  • Envie as amostras pelos Correios ou entre em contato para realizar a coleta em nosso laboratório.

Informações sobre o exame:


O painel compreende 409 genes previamente associados a síndrome de Ehlers-Danlos, anomalias de coanas, síndromes de craniosinostoses (síndrome de Crouzon, síndrome de Apert, síndrome de Saethre-Chotzen), osteogênese imperfeita, osteopetrose, acondroplasia, hipocondroplasia, anomalias de membros, displasias esqueléticas, síndrome de Stickler, síndrome de Marfan, síndrome de Loeys Dietz, acondrogênese, entre outras.

Entre em contato para solicitar o exame:


  • E-mail: especialista_cegh@ib.usp.br
    (em horário comercial)