TUSS: 40503801 CID10: L93, M33, M33.2, M34
Especialidade: Reumatologia, Genética, Imunologia
TCONJ - DOENÇA DO TECIDO CONJUNTIVO
Material
SANGUE TOTAL OU SWAB BUCAL
Meio(s) de Coleta
Sangue: Tubo com EDTA (roxo) Swab Bucal: Kit coletor específico
Prazo
35 dias úteis
Realização
Segunda à sexta-feira
Volume Mínimo
4 mL
Método
SEQUENCIAMENTO DE NOVA GERAÇÃO (NGS) E CNV
FORMULÁRIO OBRIGATÓRIO
RQ-0596 TERMO DE CONSENTIMENTO LIVRE E ESCLARECIDO PARA TESTE GENÉTICO
FORMULÁRIO OBRIGATÓRIO
RQ-0697 QUESTIONÁRIO - EXAMES GENÉTICOS
FORMULÁRIO OBRIGATÓRIO
Interpretação
Doenças Relacionadas
Lúpus eritematoso sistêmico, Polimiosite (PM), Esclerose sistêmica (ES) , Dermatomiosite (DM).
Genes analisados
ABCC6, ABCC9, ABL1, ACAN, ACP5, ACTA2, ACVR1, ADAMTS2, ADAMTSL2, AEBP1, AGA, AGPS, ALDH18A1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMBN, AMELX, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARSB, ARSL, ASXL1, ATP6V0A2, ATP7A, B3GALT6, B3GAT3, B4GALT7, B9D1, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, C1R, C1S, C2CD3, CA2, CANT1, CASR, CBS, CC2D2A, CCDC8, CCN6, CCNQ, CDH3, CDKN1C, CDT1, CEP120, CEP290, CFAP410, CHST14, CHST3, CHSY1, CILK1, 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, DYNC2I1, DYNC2I2, EBP, EDN1, EFEMP2, EFNB1, EFTUD2, EIF2AK3, ELN, ENAM, ENPP1, EOGT, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20C, 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, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPR68, GPX4, GSC, GUSB, HDAC4, HDAC8, HES7, HGSNAT, HOXA13, HOXD13, HPGD, HSPG2, HYLS1, IDH1, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT80, IHH, IL11RA, IL1RN, INPPL1, ITGB6, KAT6A, KIF22, KIF7, KLK4, KMT2D, KRAS, LAMA3, LAMB3, LBR, LEMD3, LIFR, LMNA, LMX1B, LONP1, LOX, LPIN2, LRP4, LRP5, LTBP3, LTBP4, MAFB, MAN2B1, MATN3, MED12, MEGF8, MEOX1, MESP2, MGP, MKS1, MMP13, MMP2, MMP20, MNX1, MPDU1, MSX2, MYCN, MYH11, MYLK, NAGLU, NEK1, NEU1, NF1, NFIX, NIN, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPR2, NSD1, NSDHL, OBSL1, ODAPH, OFD1, ORAI1, ORC1, ORC4, ORC6, OSTM1, P3H1, 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, PRKG1, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RASGRP2, RBM8A, RBPJ, RECQL4, RFT1, RIN2, RMRP, ROBO3, ROGDI, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SBDS, SCARF2, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SGSH, SH3BP2, SH3PXD2B, SHOX, SKI, SLC13A5, SLC17A5, SLC24A4, SLC26A2, SLC29A3, SLC2A10, 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, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TWIST2, TXNL4A, TYROBP, USP9X, WDR19, WDR35, WDR72, WNT1, WNT10B, WNT5A, WNT7A,XRCC4, , XYLT2, YY1, ZEB2, ZIC1, ZMPSTE24, ZNF469
Links úteis
Doença mista do tecido conjuntivo (DMTC)
