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Exame » PAINEL SOMÁTICO TUMORES SÓLIDOS - TARGET [710962]

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Este painel consiste no sequenciamento de DNA de todos os exons dos seguintes genes: ACVR1, ACVR1B, AKT1, AKT2, AKT3, ALK, ALOX12B, AMER1, APC, AR, ARAF, ARFRP1, ARID1A, ARID1B, ARID2, ASXL1, ATM, ATR, ATRX, AURKA, AURKB, AXIN1, AXIN2, AXL, B2M, BAP1, BARD1, BCL2L1, BCL2L11, BCOR, BCORL1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, C11ORF30 (EMSY), CASP8, CBFB, CDC73, CDH1, CDK12, CDK4, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CHD4, CHEK1, CHEK2, CIC, CREBBP, CSNK1A1, CTCF, CTLA4, CTNNA1, CTNNB1, CUL3, CXCR4, CYLD, DAXX, DDR2, DICER1, EED, EGFR, EIF1AX, EP300, EPCAM, EPHA3, EPHA7, EPHB1, ERBB2, ERBB3, ERBB4, ERCC2, ERCC3, ERCC4, ERCC5, ERRFI1, ESR1, FAM175A (ABRAXAS1), FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAT1, FBXW7, FGF23, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FOXA1, FOXL2, FUBP1, FYN, GABRA6, GATA3, GEN1, GNA11, GNAQ, GNAS, GPR124 (ADGRA2), GPS2, GRIN2A, GRM3, H3F3A, H3F3B, H3F3C (H3-5), HIST1H3A (H3C1), HIST1H3B (H3C2), HIST1H3C (H3C3), HIST1H3G (H3C8), HIST1H3I (H3C11), HIST1H3J (H3C12), HIST2H3D (H3C13), HIST3H3 (H3-4), HNF1A, HOXB13, HRAS, HSD3B1, IDH1, IDH2, IFNGR1, INHA, INHBA, INPP4A, INPP4B, IRS1, IRS2, JAK1, JAK2, JAK3, JUN, KDM5C, KDM6A, KDR, KEAP1, KIT, KLF4, KMT2B (MLL4), KMT2C (MLL3), KMT2D (MLL2), KRAS, LATS1, LATS2, LMO1, LRP1B, LYN, LZTR1, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K13, MAP3K4, MAPK1, MAPK3, MAX, MDC1, MDM2, MED12, MEN1, MET, MGA, MITF, MLH1, MLL (KMT2A), MRE11A, MSH2, MSH3, MSH6, MTOR, MUTYH, MYOD1, NBN, NF1, NF2, NFE2L2, NFKBIA, NKX2-1, NRAS, NSD1, NTRK1, NTRK2, NTRK3, PALB2, PARK2 (PRKN), PARP1, PBRM1, PDGFRA, PDGFRB, PHOX2B, PIK3C2B, PIK3C2G, PIK3C3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PMS1 (MLH2), PMS2, POLD1, POLE, PPARG, PPP2R1A, PPP2R2A, PPP6C, PREX2, PRKAR1A, PRKDC, PTCH1, PTEN, PTPN11, PTPRD, PTPRS, PTPRT, RAB35, RAC1, RAD21, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RARA, RASA1, RB1, RBM10, RECQL4, RET, RHEB, RHOA, RIT1, RNF43, ROS1, RPS6KB2, SDHA, SDHAF2, SDHB, SDHC, SDHD, SETD2, SF3B1, SLX4, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCB1, SMARCD1, SMC1A, SMC3, SMO, SOCS1, SOX17, SPEN, SPOP, SPTA1, SRC, STAG1, STAG2, STAT3, STK11, SUFU, SUZ12, SYK, TAF1, TBX3, TCEB1 (ELOC), TCF7L2, TERT, TGFBR1, TGFBR2, TMEM127, TOP1, TP53, TRAF2, TRAF7, TSC1, TSC2, TSHR, U2AF1, VHL, WISP3 (CCN6), WT1, XRCC2, ZBTB2 e ZFHX3.

Este teste também realiza análise de RNA dos seguintes genes para detecção de fusões gênicas: ABL1, BCL2, CSF1R, ESR1, EWSR1, FLI1, KIF5B, MSH2, NRG1, PAX7, RAF1, AKT3, BRAF, EGFR, ETS1, FGFR1, FLT1, KIT, MYC, NTRK1, PDGFRA, RET, ALK, BRCA1, EML4, ETV1, FGFR2, FLT3, MET, NOTCH1, NTRK2, PDGFRB, ROS1, AR, BRCA2, ERBB2, ETV4, FGFR3, JAK2, MLL, NOTCH2, NTRK3, PIK3CA, RPS6KB1, AXL, CDK4, ERG, ETV5, FGFR4, KDR, MLLT3, NOTCH3, PAX3, PPARG e TMPRSS2.

Este teste detecta amplificações nos seguintes genes: AKT2, ALK, AR, ATM, BRAF, BRCA1, BRCA2, CHEK1, CHEK2, CCND1, CCND3, CCNE1, CDK4, CDK6, EGFR, ERBB2, ERBB3, ERCC1, ERCC2, ESR1, FGF1, FGF2, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGF10, FGF14, FGF19, FGF23, FGFR1, FGFR2, FGFR3, FGFR4, JAK2, KIT, KRAS, LAMP1, MDM2, MDM4, MET, MYC, MYCL, MYCN, NRAS, NRG1, PDGFRA, PDGFRB, PIK3CA, PIK3CB, PTEN, RAF1, RET, RICTOR, RPS6KB1 e TFRC.

Este teste detecta deleções em homozigose nos genes: CDKN2A e CDKN2B.

PAINEL SOMÁTICO TUMORES SÓLIDOS - TARGET
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Genes Analisados

Painel de Genes Analisados: (327 genes)
RICTOR NM_152756 MYCN NM_005378 MYCL NM_001033082 MDM4 NM_002393 LAMP1 NM_005561 FGF9 NM_002010 FGF8 NM_006119 FGF7 NM_002009 FGF6 NM_020996 FGF5 NM_004464 FGF4 NM_002007 FGF3 NM_005247 FGF2 NM_002006 FGF19 NM_005117 FGF14 NM_004115 FGF10 NM_004465 FGF1 NM_000800 ERCC1 NM_001983 CDK6 NM_001145306 CCNE1 NM_001238 CCND3 NM_001760 CCND1 NM_053056 U2AF1 NM_006758 TSHR NM_000369 TRAF7 NM_032271 TRAF2 NM_021138 TOP1 NM_003286 TGFBR2 NM_001024847 TGFBR1 NM_001130916 TCF7L2 NM_030756 TBX3 NM_016569 TAF1 NM_004606 SYK NM_001135052 SUZ12 NM_015355 STAT3 NM_139276 STAG2 NM_006603 STAG1 NM_005862 SRC NM_005417 SPTA1 NM_003126 SPOP NM_003563 SPEN NM_015001 SOX17 NM_022454 SOCS1 NM_003745 SMC3 NM_005445 SMC1A NM_006306 SMARCD1 NM_003076 SMAD3 NM_005902 SMAD2 NM_005901 SLX4 NM_032444 SF3B1 NM_012433 SETD2 NM_014159 RPS6KB2 NM_003952 RNF43 NM_017763 RIT1 NM_006912 RHOA NM_001664 RHEB NM_005614 RECQL4 NM_004260 RBM10 NM_005676 RASA1 NM_002890 RARA NM_000964 RAD54L NM_003579 RAD52 NM_134424 RAD51B NM_002877 RAD21 NM_006265 RAB35 NM_001167606 PTPRT NM_007050 PTPRS NM_002850 PTPRD NM_001040712 PTPN11 NM_002834 PRKDC NM_006904 PRKAR1A NM_002734 PREX2 NM_025170 PPP6C NM_001123355 PPP2R2A NM_002717 PPP2R1A NM_014225 PIK3R3 NM_003629 PIK3R2 NM_005027 PIK3R1 NM_181504 PIK3CG NM_002649 PIK3CD NM_005026 PIK3CB NM_001256045 PIK3C3 NM_002647 PIK3C2G NM_004570 PIK3C2B NM_002646 PBRM1 PARP1 NM_001618 NSD1 NM_022455 NKX2-1 NM_003317 NFKBIA NM_020529 NFE2L2 NM_006164 NF2 NM_000268 MYOD1 NM_002478 MSH3 NM_002439 MGA NM_001164273 MED12 NM_005120 MDC1 NM_014641 MAPK3 NM_001040056 MAPK1 NM_002745 MAP3K4 NM_005922 MAP3K13 NM_004721 MAP3K1 NM_005921 MAP2K4 NM_003010 LZTR1 NM_006767 LYN NM_002350 LRP1B NM_018557 LMO1 NM_002315 LATS2 NM_014572 LATS1 NM_004690 KLF4 NM_004235 KDM5C NM_004187 JUN NM_002228 JAK3 NM_000215 JAK1 NM_002227 IRS2 NM_003749 IRS1 NM_005544 INPP4B NM_003866 INPP4A NM_001566 INHBA NM_002192 INHA NM_002191 IFNGR1 NM_000416 HSD3B1 NM_000862 HNF1A NM_000545 H3F3B NM_005324 H3F3A NM_002107 GRM3 NM_000840 GRIN2A NM_000833 GPS2 NM_004489 GEN1 NM_182625 GATA3 NM_001002295 GABRA6 NM_000811 FYN NM_002037 FOXA1 NM_004496 FGF23 NM_020638 FBXW7 NM_001013415 FAT1 NM_005245 FANCL NM_018062 FANCI NM_001113378 FANCG NM_004629 FANCF NM_022725 FANCE NM_021922 FANCD2 NM_001018115 FANCC NM_000136 ERRFI1 NM_018948 ERCC5 NM_000123 ERCC4 NM_005236 ERCC3 NM_000122 ERBB4 NM_001042599 ERBB3 NM_001005915 EPHB1 NM_004441 EPHA7 NM_004440 EPHA3 NM_005233 EP300 NM_001429 EIF1AX NM_001412 EED NM_003797 DICER1 NM_177438 DDR2 NM_006182 DAXX NM_001141970 CYLD NM_001042355 CXCR4 NM_001008540 CUL3 NM_001257197 CTNNA1 NM_001903 CTLA4 NM_005214 CTCF NM_006565 CSNK1A1 NM_001892 CREBBP NM_004380 CHEK1 NM_001274 CHD4 NM_001273 CDKN2C NM_001262 CDKN1A NM_078467 CBFB NM_001755 CASP8 NM_001228 BCORL1 NM_021946 BCOR NM_001123385 BCL2L11 NM_001204106 BCL2L1 NM_138578 AXIN2 NM_004655 AXIN1 NM_003502 AURKB NM_004217 AURKA NM_003600 ASXL1 NM_015338 ARID2 NM_152641 ARID1B NM_020732 ARFRP1 NM_001134758 AMER1 NM_152424 ALOX12B NM_001139 AKT2 NM_001626 ACVR1B NM_020328 ACVR1 NM_001105 XRCC2 NM_005431 WT1 NM_024426 VHL NM_000551 TSC2 NM_000548 TSC1 NM_000368 TP53 NM_000546 TMPRSS2 NM_001135099 TMEM127 NM_017849 TERT NM_001193376 SUFU NM_016169 STK11 NM_000455 SMO NM_005631 SMARCB1 NM_003073 SMARCA4 NM_001128849 SMAD4 NM_005359 SDHD NM_003002 SDHC NM_003001 SDHB NM_003000 SDHAF2 NM_017841 SDHA NM_004168 RPS6KB1 NM_003161 ROS1 NM_002944 RET NM_020975 RB1 NM_000321 RAF1 NM_002880 RAD51D NM_002878 RAD51C NM_058216 RAD51 NM_002875 RAD50 NM_005732 RAC1 NM_018890 PTEN NM_000314 PTCH1 NM_000264 PPARG NM_005037 POLE NM_006231 POLD1 NM_002691 PMS2 NM_000535 PIK3CA NM_006218 PHOX2B NM_003924 PDGFRB NM_002609 PDGFRA NM_006206 PAX7 NM_002584 PAX3 NM_000438 PALB2 NM_024675 NTRK3 NM_001007156 NTRK2 NM_001007097 NTRK1 NM_002529 NRG1 NM_001159995 NRAS NM_002524 NOTCH3 NM_000435 NOTCH2 NM_024408 NOTCH1 NM_017617 NF1 NM_001042492 NBN NM_002485 MYC NM_002467 MUTYH NM_001048174 MTOR NM_004958 MSH6 NM_000179 MSH2 NM_000251 MRE11A NM_005591 MLLT3 NM_004529 MLH1 NM_000249 MITF NM_198159 MET NM_000245 MEN1 NM_001370259 MDM2 NM_002392 MAX NM_197957 MAP2K2 NM_030662 MAP2K1 NM_002755 KRAS NM_004985 KIT NM_000222 KIF5B NM_004521 KEAP1 NM_012289 KDR NM_002253 KDM6A NM_021140 JAK2 NM_004972 IDH2 NM_002168 IDH1 NM_005896 HRAS NM_176795 HOXB13 NM_006361 GNAS NM_001077488 GNAQ NM_002072 GNA11 NM_002067 FUBP1 NM_003902 FOXL2 NM_023067 FLT3 NM_004119 FLT1 NM_001159920 FLI1 NM_002017 FLCN NM_144997 FH NM_000143 FGFR4 NM_002011 FGFR3 NM_000142 FGFR2 NM_000141 FGFR1 NM_001174063 FANCA NM_000135 EWSR1 NM_005243 ETV5 NM_004454 ETV4 NM_001986 ETV1 NM_004956 ETS1 NM_005238 ESR1 NM_000125 ERG NM_182918 ERCC2 NM_000400 ERBB2 NM_001005862 EPCAM NM_002354 EML4 NM_019063 EGFR NM_005228 CTNNB1 NM_001098210 CSF1R NM_005211 CIC NM_015125 CHEK2 NM_007194 CDKN2B NM_004936 CDKN2A NM_000077 CDKN1B NM_004064 CDK4 NM_000075 CDK12 NM_016507 CDH1 NM_004360 CDC73 NM_024529 BRIP1 NM_032043 BRCA2 NM_000059 BRCA1 NM_007294 BRAF NM_004333 BMPR1A NM_004329 BLM NM_000057 BCL2 NM_000633 BARD1 NM_000465 BAP1 NM_004656 B2M NM_004048 AXL NM_001699 ATRX NM_000489 ATR NM_001184 ATM NM_000051 ARID1A NM_006015 ARAF NM_001256196 AR NM_000044 APC NM_000038 ALK NM_004304 AKT3 NM_181690 AKT1 NM_001382430 ABL1 NM_007313

Pseudogenes

As seguintes regiões apresentam pseudogenes, o que limita a qualidade da chamada de variantes nessas regiões e, portanto, resultados não confiáveis não serão relatados.

  • SDHA: Pseudo-gene no(s) exon(s):1-15

  • PMS2: Pseudo-gene no(s) exon(s):1-5,9,11-15

  • PIK3CA: Pseudo-gene no(s) exon(s):10-14

  • NOTCH2: Pseudo-gene no(s) exon(s):1-4

  • KRAS: Pseudo-gene no(s) exon(s):5

  • CHEK2: Pseudo-gene no(s) exon(s):11-15

  • BMPR1A: Pseudo-gene no(s) exon(s):12-13

    • Documentos Obrigatórios

    Termo de Consentimento

    Instruções

    Exigência Descrição
    Materiais
    • Biópsia tumoral em bloco de parafina
    Conservantes
    • Parafina
    Conservação

    Os blocos de parafina devem ser enviados em temperatura ambiente (18-25ºC).

    Durante o envio, os blocos devem ser acondicionados em embalagens fechadas, que permitam proteger o material de deformações mecânicas e calor.

    Critérios de Rejeição
    • Amostra processada com fixadores metálicos (B4 e B5)
    • Material sem fixador
    • Descalcificação óssea (medula)
    • Material escasso
    • Temperatura de transporte inadequada
    • Amostras sem identificação
    • Amostras sem solicitação médica ou sem dados clínicos
    • Amostra congelada
    • Amostras que não se enquadram nos critérios de qualidade interna após avaliação pelo patologista responsável.
    Documentos Obrigatórios
      Laudo anatomopatológico
    Última Atualização

    16/06/2023

    Documentos Obrigatórios

    Metodologia

    A metodologia usada no exame é TSO-TUMORES SÓLIDOS.

    DNA e RNA são extraídos e o material genético é preparado para sequenciamento de nova geração (NGS).

    Limitações do exame

    Este teste não detecta variantes em genes que não são avaliados no painel.

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