Código P9
Trata-se de um teste clínico destinado a facilitar o diagnóstico genético de uma ampla gama de defeitos imunológicos hereditários e congênitos, abrangendo genes associados a Imunodeficiências Primárias (PID) conhecidas, Doenças Imunológicas e Deficiências do Sistema Complemento.
Esclarecimento: Os genes marcados em negrito possuem alguns/ou éxons que apresentam alto percentual de homologia (>90% ou, em alguns casos, >98%) com outras regiões do genoma e/ou que incluem sequências repetitivas, dificultando o mapeamento, denominado de variantes e posterior análise nas áreas mencionadas.
Painéis
DESCRIÇÃO
Este painel oferece o sequenciamento de mais de 200 genes associados a Imunodeficiências Primárias.
GENES
ACD, ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, AP3B1, ATM, B2M, BCL10, BLNK, BLOC1S6, BTK, CARD11, CARD14, CARD9, CASP10, CASP8, CD247, CD27, CD3E, CD3G, CD40LG, CD79A, CD79B, CD8A, CDK1, CEBPE, CHD7, CIITA, CLPB, COPA, CR2, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DCLRE1A, DCLRE1B, DNMT3B, DOCK2, DOCK8, ELANE, EPG5, FADD, FAS, FASLG, FERMT3, FOXN1, FOXP3, FPR1, G6PC3, GATA2, GFI1, HAX1, ICOS, IFIH1, IFNGR1, IFNGR2, IGLL1, IKBKB, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL36RN, IL7R, IRAK4, IRF7, IRF8, ISG15, ITCH, ITGB2, ITK, JAGN1, JAK3, LAMTOR2, LCK, LIG4, LPIN2, LRBA, LYST, MAGT1, MALT1, MAP3K14, MEFV, MOGS, MVK, MYD88, NBN, NCF2, NCF4, NFAT5, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP12, NLRP3, NOD2, NOP10, ORAI1, PARN, PGM3, PIK3CD, PIK3R1, PLCG2, PMS2, PNP, POLE, PRF1, PRKCD, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RBCK1, RFX5, RFXANK, RFXAP, RHOH, RNASEH2A, RNASEH2B, RNASEH2C, RORC, RTEL1, SAMHD1, SEMA3E, SH2D1A, SH3BP2, SLC29A3, SLC35C1, SLC37A4, SLC7A7, SMARCAL1, SP110, SPINK5, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAP1, TAP2, TAPBP, TAZ, TBK1, TCN2, TERC, TERT, TICAM1, TINF2, TLR3, TMC6, TMC8, TMEM173, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFSF12, TPP2, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC7A, TYK2, UNC13D, UNC93B1, UNG, VPS13B, VPS45, WAS, WIPF1, XIAP, ZAP70, ZBTB24.
Código P9.01
Pedir painelDESCRIÇÃO
Este painel oferece o sequenciamento de mais de 350 genes associados a diversas condições imunológicas e relacionadas a Imunodeficiências Primárias, incluindo Agamaglobulinemia (Deficiência de Anticorpos), Deficiências Funcionais de Neutrófilos e Neutropenias, Doença Granulomatosa Crônica, Doenças Linfoproliferativas como ALPS, Linfohistiocitose Hemofagocítica, Imunodeficiência Grave Combinada (SCID), Micobacteriose Atípica, Síndrome de Wiskott-Aldrich e Síndrome de Hiper-IgM.
GENES
A2ML1, ABCD4, ACD, ACP5, ADA, ADAM17, ADNP, AGA, AICDA, AIRE, AK2, ALG1, ALG12, AP3B1, ARMC4, ARPC1B, ATM, B2M, BCL10, BCL11B, BLM, BLNK, BRCA1, BRCA2, BRIP1, BTK, BUB1B, C11orf70, C1QA, C1QB, C1QC, C1R, C1S, C2, C21orf59, C3, C5, C6, C7, C8A, C8B, C8orf37, CARD11, CARD9, CASP10, CASP8, CCBE1, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3E, CD3G, CD40LG, CD55, CD59, CD79A, CD79B, CD81, CD8A, CDCA7, CDSN, CEBPE, CECR1, CFB, CFD, CFH, CFI, CFP, CHAMP1, CHD1, CHD7, CIITA, CLEC7A, CLPB, COG6, COG7, CPN1, CR2, CREBBP, CRIPT, CSF3R, CTC1, CTLA4, CTPS1, CXCR4, CYBA, CYBB, DCLRE1C, DEAF1, DKC1, DNAAF1, DNAAF2, DNAAF3, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC21, DNAL1, DNASE1L3, DNMT3B, DOCK2, DOCK8, DRC1, DSG1, DYX1C1, EGFR, ELANE, EPG5, ERCC2, ERCC4, ERCC6L2, ETV6, EXTL3, F12, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FBXL4, FCGR2C, FCGR3A, FCN3, FERMT3, FMO3, FOXN1, FOXP3, G6PC3, GALNS, GAS8, GATA1, GATA2, GFI1, GSS, HAX1, HELLS, HGSNAT, HYDIN, ICOS, IFIH1, IFNGR1, IFNGR2, IGHM, IGKC, IGLL1, IKBKAP, IKBKB, IKZF1, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL36RN, IL7R, IRAK4, IRF2BP2, IRF7, IRF8, ISG15, ITCH, ITGB2, ITK, IVD, JAGN1, JAK3, KMT2D, KRAS, LAMTOR2, LAT, LCK, LEP, LIG4, LPIN2, LRBA, LRRC6, LRRC8A, LYST, MAD2L2, MAGT1, MALT1, MAN2B1, MANBA, MC2R, MCM4, MEFV, MGP, MMAA, MMAB, MMACHC, MOGS, MPL, MPO, MS4A1, MTHFD1, MUT, MVK, MYD88, NBN, NCF1, NCF2, NCF4, NFASC, NFE2L2, NFKB1, NFKB2, NFKBIA, NGF, NHEJ1, NHP2, NLRC4, NLRP12, NLRP3, NME8, NOD2, NOP10, NRAS, ORAI1, OXCT1, PALB2, PARN, PCCA, PCCB, PEPD, PGM3, PIH1D3, PIK3CD, PIK3R1, PLCG2, PMM2, PNP, POLE, PPP1R21, PRF1, PRKCD, PSTPIP1, PTPRC, PTRF, RAB27A, RAC2, RAD50, RAD51, RAD51C, RAG1, RAG2, RASGRP1, RBCK1, RELB, RFWD3, RFX5, RFXANK, RFXAP, RNF113A, RNF31, RORC, RPL11, RPL15, RPL18, RPS10, RPS17, RPS19, RPS24, RPS26, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, SAMD9, SAMD9L, SAMHD1, SBDS, SCNN1B, SCNN1G, SDCCAG8, SEMA3E, SERAC1, SERPING1, SGPL1, SH2D1A, SKIV2L, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC39A4, SLC39A8, SLC46A1, SLK, SLX4, SMARCAL1, SMARCD2, SNAI2, SP110, SPAG1, SPATA5, SPINK5, SRP72, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TALDO1, TAP1, TAP2, TAPBP, TAZ, TBCE, TBX1, TBXAS1, TCN2, TERC, TERT, TGFB3, TINF2, TMEM173, TNFAIP3, TNFRSF13B, TNFRSF13C, TNFRSF1A, TRAC, TRAF3IP2, TRNT1, TRPS1, TSR2, TTC25, TTC37, TTC7A, TYK2, UBE2T, UMPS, UNC119, UNC13D, UNG, USB1, VIPAS39, VPS13B, VPS33B, VPS45, WAS, WIPF1, WRAP53, XIAP, XRCC2, ZAP70, ZBTB24, ZMYND10.
Código P9.02
Pedir painelDESCRIÇÃO
Este painel oferece o sequenciamento de mais de 60 genes envolvidos no desenvolvimento de Doenças Autoinflamatórias. Inclue-se síndrome hereditária de Febres periódicas, Criopirinopatias, Doença granulomatosa, Infecções piogênicas, Distúrbios associados a psoríase/lesões pustulosas, Distúrbios associados a Paniculite ou Lipodistrofia e Febres periódicas indefinidas.
GENES
ACP5, ACTB, ADA2, ADAM17, ADAR, ADGRE2, AGBL3, AP1S3, ARPC1B, CARD14, COPA, DDX58, DNASE2, EGFR, IFIH1, IL10RA, IL10RB, IL1RN, IL36RN, ISG15, LACC1, LPIN2, MEFV, MVK, NCSTN, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NOD2, OSMR, OTULIN, PLCG2, POLA1, POMP, PSMA3, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, RBCK1, RELA, RNASEH2A, RNASEH2B, RNASEH2C, RNF31, SAMHD1, SH3BP2, SHARPIN, SLC29A3, STIM1, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF1A, TREX1, TRNT1, USP18, WDR1.
Código P9.03
Pedir painelDESCRIÇÃO
Este painel oferece o sequenciamento de mais de 70 genes para o diagnóstico genético de pacientes com suspeita clínica de Síndrome Hemolítica Urêmica Atípica (SHUa) ou defeitos no sistema do complemento.
GENES
ADIPOQ, ADIPOR1, ADIPOR2, ARMC4, C1QA, C1QB, C1QBP, C1QC, C1R, C1S, C2, C3, C3AR1, C4BPA, C4BPB, C5, C5AR1, C5AR2, C7, C8A, C8B, C8G, C9, CCDC39, CCDC40, CCDC65, CCDC103, CCDC114, CCNO, CD16, CD55, CD59, CD93, CFB, CFD, CFH, CFI, CFP, CLU, COLEC11, CR2, CRP, DGKE, DNAAF1, DNAAF2, DNAAF3, DNAH5, DNAH11, DNAI1, DNAI2, DNAL1, DNAJC16, DRC1, DYX1C1, FCN2, FCN3, HYDIN, LRRC6, MASP1, MASP2, MAT2A, NME8, OFD1, PIGA, PTX3, RPGR, RSPH1, RSPH4A, RSPH9, SERPING1, SPAG1, THBD, VSIG4, VTN.
Código P9.04
Pedir painelDESCRIÇÃO
Este painel oferece o sequenciamento de 70 genes associados a Doenças Linfoproliferativas Monogênicas Autoimunológicas e Linfo-histiocitose Hemofagocítica Hereditária.
GENES
ACP5, ADA2, ADAR, AICDA, AIRE, AP3B1, BLOC1S6, BTK, CASP10, CASP8, CD27, CD40LG, CR2, CTLA4, CYBA, CYBB, DOCK8, FADD, FAS, FASLG, FOXP3, ICOS, IFIH1, IL10RA, IL10RB, IL21, IL21R, IL2RA, ITCH, LRBA, LYST, NCF2, NCF4, NFAT5NFKB2, NFKBIA, ORAI1, PIK3CD, PIK3R1, PLCG2, PNP, PRF1, PRKCD, RAB27A, RAC2, RFX5, RFXANK, RFXAP, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SH2D1A, SLC7A7, STAT1, STAT3, STAT5B, STIM1, STX11, STXBP2, TBX1, TMEM173, TNFRSF13B, TNFRSF13C, TNFSF12, TPP2, TREX1, UNC13D, UNG, WAS, XIAP.
Código P9.05
Pedir painelDESCRIÇÃO
Este painel oferece o sequenciamento de mais de 250 genes com comprovada associação alta ou média de suscetibilidade à Doença Inflamatória Intestinal.
GENES
ABCB1, ADA, ADAM17, AICDA, AIRE, AMACR, ANKRD55, AP3D1, APC, APOA1, APOB, ATG16L1, ATM, AXIN1, BCL10, BTK, BTNL2, C1S, C2, C3, C5, CARD11, CARD9, CARMIL2, CASP8, CASR, CAVIN1, CCDC40, CCL11, CCND1, CD19, CD247, CD3G, CD4, CD40, CD40LG, CD79A, CD81, CDX1, CFB, CFH, CFP, CFTR, CIITA, CLEC7A, COG6, COL17A1, CR2, CTLA4, CTNNB1, CYBA, CYBB, DCLRE1C, DEFB1, DGAT1, DKC1, DOCK2, DOCK8, DSG1, DSP, DUOX2, ECM1, EDNRB, EGFR, ELANE, ENG, EPCAM, F5, FAS, FASLG, FCGR2C, FCGR3A, FERMT1, FGA, FLG, FLT4, FOXP1, FOXP3, FRAS1, FUT2, G6PC3, GATA2, GDNF, GUCY2C, H6PD, HLA-B, HLA-DQA1, HLA-DQB1, HPS1, HPS4, HPS6, HSD11B1, HSPA1L, ICOS, IFIH1, IFNG, IFNGR1, IFNGR2, IGF2R, IGHG1, IGHM, IKZF1, IKZF2, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL15, IL15RA, IL17F, IL17RA, IL1RL1, IL21, IL21R, IL23A, IL23R, IL2RA, IL2RB, IL2RG, IL33, IL4, IL6, IL7R, INPP5D, IRAK1, IRAK4, IRF8, IRGM, ITCH, ITGAM, ITGB2, JAK2, JAK3, KIT, KRAS, KRT1, LBR, LCK, LCT, LIG4, LPIN2, LRBA, LRRK2, LYST, MALT1, MASP2, MEFV, MET, MGAM, MIF, MPO, MTTP, MUC2, MVK, MYD88, MYO5B, NCF1, NCF2, NCF4, NCSTN, NEUROG3, NFAT5, NFKB1, NFKBIA, NLRC4, NLRP3, NOD2, NOS1, NOX1, NR1H4, NRAS, OPLAH, P2RX7, PCSK1, PDGFRL, PIK3CA, PIK3CD, PIK3R1, PLCG2, PNLIP, PRKCD, PRSS1, PSMD1, PSTPIP1, PTEN, PTGER4, PTPN2, PTPN22, PTPRC, RAC2, RAG1, RAG2, RET, RHO, RORC, RPSA, RTEL1, SAG, SAR1B, SCNN1A, SEMA3C, SERPING1, SFTPD, SH2D1A, SKIV2L, SLC10A2, SLC22A4, SLC22A5, SLC23A1, SLC26A3, SLC2A14, SLC2A2, SLC2A5, SLC37A4, SLC39A4, SLC5A1, SLC7A7, SLCO3A1, SMAD4, SPINK5, SPINT2, STAT1, STAT3, STAT4, STAT5B, STIM1, STX3, STXBP2, TBX21, TCF3, TERC, TERT, TGFB1, TGFB2, TGFB3, TINF2, TLR3, TLR4, TMPRSS15, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFSF12, TP53, TRAF3, TRAF3IP2, TTC37, TTC7A, TYK2, UGT1A1, UNC93B1, VEGFC, WAS, WIPF1, WRAP53, XIAP, ZAP70.