Super Painel para Imunodeficiências Primárias e Doenças Inflamatórias

Investigação genética de Imunodeficiências Primárias e Doenças Inflamatórias por Super Painel, com análise direcionada baseada em genoma completo.

Aplicações

Doenças raras e hereditárias

Amostras aceitas

Sangue periférico (preferencial), Swab bucal, DNA extraído

Prazo estimado

Tradicional · 30 dias corridos, após a aceitação da amostra Rápido · 15 dias corridos, após a aceitação da amostra

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Escopo analítico

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Genes analisados

603 genes analisados.

Ver conteúdo completo +

ABI3, ACD, ACP5, ACTB, ACTN1, ADA, ADA2, ADAM17, ADAR, AGR2, AICDA, AIRE, AK2, ALPI, ALPK1, ANGPT1, ANKZF1, AP1S3, AP3B1, AP3D1, APCS, APOA1, APOA2, APOC2, APOL1, ARHGEF1, ARPC1B, ARPC5, ASRGL1, ATAD3A, ATG4A, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S6, BRCA1, BRCA2, BRIP1, BTK, C17ORF62, C1QA, C1QB, C1QC, C1R, C1S, C2, C2ORF69, C3, C4A, C4B, C4BPA, C4BPB, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CBLB, CCBE1, CCR2, CD19, CD247, CD27, CD274, CD28, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPE, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHD7, CHUK, CIB1, CIITA, CLCN7, CLEC16A, CLEC7A, CLPB, COL7A1, COLEC11, COPA, COPG1, CORO1A, CPT2, CR2, CRACR2A, CREBBP, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTNNBL1, CTPS1, CTSC, CXCR2, CXCR4, CXORF36, CYBA, CYBB, CYBC1, DBF4, DBR1, DCLRE1A, DCLRE1B, DCLRE1C, DDX58, DEF6, DIAPH1, DKC1, DNAJC21, DNASE1L3, DNASE2, DNMT3B, DOCK11, DOCK2, DOCK8, DPP9, DUT, EFL1, ELANE, ELF4, EP300, EPG5, ERBIN, ERCC4, ERCC6L2, ERN1, EXTL3, F12, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FARP1, FAS, FASLG, FAT4, FAZ, FBRS, FCGR3A, FCHO1, FCN3, FERMT1, FERMT3, FGA, FLT3LG, FNIP1, FOXI3, FOXM1, FOXN1, FOXP3, FPR1, G6PC1, G6PC3, G6PD, GATA1, GATA2, GFI1, GIMAP6, GINS1, GINS4, GNAI2, GSN, GTF2H5, GTF3A, GUCY2C, HAVCR2, HAX1, HCK, HELLS, HMOX1, HPS1, HPS4, HPS6, HS3ST6, HSPA1L, HTRA2, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNG, IFNGR1, IFNGR2, IGFBP5, IGHM, IGKC, IGLL1, IKBKB, IKBKE, IKBKG, IKZF1, IKZF2, IKZF3, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL18BP, IL1R1, IL1RN, IL21, IL21R, IL23R, IL27RA, IL2RA, IL2RB, IL2RG, IL36RN, IL6, IL6R, IL6ST, IL7, IL7R, INO80, IRAK1, IRAK4, IRF1, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGB2, ITK, ITPKB, ITPR3, JAGN1, JAK1, JAK3, KARS, KDM6A, KMT2A, KMT2D, KNG1, KRAS, LACC1, LAMTOR2, LAT, LCK, LCP2, LIG1, LIG4, LPIN2, LRBA, LRRC8A, LSM11, LY96, LYN, LYST, LYZM, MAD2L2, MAGT1, MALT1, MAN2B2, MAP3K14, MAPK8, MASP1, MASP2, MBL2, MCM10, MCM4, MCTS1, MECOM, MED13L, MEFV, MICA, MLPH, MMACHC, MOGS, MPEG1, MPO, MRTFA, MS4A1, MSH6, MSMO1, MSN, MTHFD1, MTPAP, MVK, MYD88, MYO5A, MYO5B, MYOF, MYSM1, NBAS, NBEAL2, NBN, NCF1, NCF2, NCF4, NCKAP1L, NCSTN, NFAT5, NFATC1, NFATC2, NFE2L2, NFKB1, NFKB2, NFKBIA, NFKBIB, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NME1, NOD2, NOP10, NOS2, NPC1, NRAS, NSMCE3, NUDCD3, OAS1, OAS2, ODC1, ORAI1, OSMR, OSTM1, OTULIN, PALB2, PARN, PARP1, PAX1, PAX5, PDCD1, PEPD, PGM3, PI4KA, PIGA, PIK3CD, PIK3CG, PIK3R1, PLCG1, PLCG2, PLEKHM1, PLG, PMS2, PMVK, PNP, POLA1, POLD1, POLD2, POLD3, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, POU2AF1, PRF1, PRIM1, PRKCD, PRKDC, PSEN1, PSENEN, PSMA3, PSMB10, PSMB4, PSMB8, PSMB9, PSMD12, PSMG2, PSTPIP1, PTCRA, PTEN, PTPN2, PTPRC, RAB27A, RAC2, RAD50, RAD51, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RASGRP2, RBCK1, RBM45, RECQL4, REL, RELA, RELB, RELN, RFWD3, RFX5, RFXANK, RFXAP, RHBDF2, RHOG, RHOH, RIPK1, RIPK3, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASEL, RNF168, RNF31, RNU4ATAC, RNU7-1, RORC, RPSA, RTEL1, SAMD9, SAMD9L, SAMHD1, SASH3, SBDS, SEC61A1, SEMA3E, SERPING1, SGPL1, SH2B3, SH2D1A, SH3BP2, SH3KBP1, SHARPIN, SKIV2L, SLC13A4, SLC19A1, SLC29A3, SLC35C1, SLC37A4, SLC39A4, SLC39A7, SLC46A1, SLC7A7, SLCO2A1, SLX4, SMARCAL1, SMARCD2, SNORA31, SNX10, SOCS1, SP110, SPI1, SPINK5, SPPL2A, SRP19, SRP54, SRP72, SRPR, STAT1, STAT2, STAT3, STAT4, STAT5B, STAT6, STIM1, STING1, STK4, STN1, STX11, STXBP2, STXBP3, SYK, TAFAZZIN, TANK, TAP1, TAP2, TAPBP, TAZ, TBK1, TBX1, TBX21, TCF3, TCIRG1, TCN2, TERT, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, TICAM1, TINF2, TIRAP, TLN1, TLR3, TLR4, TLR7, TLR8, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TNFSF12, TNFSF13, TNFSF9, TNIP1, TOP2B, TP53, TPP1, TPP2, TRAC, TRAF3, TRAF3IP2, TREX1, TRIM22, TRNT1, TRPV3, TSPAN14, TTC37, TTC7A, TTR, TUBGCP3, TYK2, UBA1, UBE2T, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VAV1, VAV2, VPREB1, VPS13B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, XRCC2, ZAP70, ZBTB24, ZC3HC1, ZFP36, ZNF341, ZNF750, ZNFX1

Solicitação médica

Necessária