PIMUNO - PAINEL DE IMUNODEFICIENCIAS E DOENÇAS IMUNOLÓGICAS COMPLETO

• FORMULÁRIO OBRIGATÓRIO

  RQ-0567 BRCA 1 E 2 (NGS OU MLPA) OU PAINEL DE 30 GENES PARA CÂNCER HEREDITÁRIO FORMULÁRIO E CONSENTIMENTO

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• FORMULÁRIO OBRIGATÓRIO

  RQ-0697 QUESTIONÁRIO - EXAMES GENÉTICOS

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Interpretação

Doenças Relacionadas

Imunodeficiências Primárias, Agamaglobulinemia (Deficiência de Anticorpos), Deficiências funcionais de neutrófilos e neutropenias, Doença Granulomatosa Crônica, Linfohistiocitose Hemofagocítica, Imunodeficiência Grave Combinada (SCID), Micobacterioses Atípicas, Síndrome de Wiskott-Aldrich, Síndrome Hiper-IgM

Genes analisados

A2ML1, ABCD4, ACD, ACP5, ADA, ADA2, ADAM17, ADAMTS3, ADNP, AGA, AICDA, AIRE, AK2, ALG1, ALG12, ALPI, ALPK1, ANGPT1, AP1S3, AP3B1, AP3D1, ARHGEF1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BRCA1, BRCA2, BRIP1, BTK, BUB1B, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CAVIN1, CCBE1, CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CDK9, CDSN, CEBPE, CFAP298, CFAP300, CFAP418, CFB, CFD, CFH, CFI, CFP, CHAMP1, CHD1, CHD7, CIB1, CIITA, CLCN7, CLEC7A, CLPB, COG6, COG7, COPA, CORO1A, CPN1, CR2, CREBBP, CRIPT, CSF3R, CTC1, CTLA4, CTPS1, CXCR2, CXCR4, CYBA, CYBB, CYBC1, DBR1, DCLRE1B, DCLRE1C, DEAF1, DEF6, DHFR, DIAPH1, DKC1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC21, DNAL1, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DRC1, DSG1, DTNBP1, EFL1, EGFR, ELANE, ELP1, EPG5, ERBIN, ERCC2, ERCC4, ERCC6L2, ETV6, EXTL3, F12, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FBXL4, FCGR3A, FCHO1, FCN3, FERMT3, FMO3, FNIP1, FOXI3, FOXN1, FOXP3, G6PC3, GALNS, GAS2L2, GAS8, GATA1, GATA2, GFI1, GINS1, GSS, GTF2H5, HAVCR2, HAX1, HCK, HELLS, HGSNAT, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, HTR1A, HYDIN, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGKC, IGLL1, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL18BP, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, INO80, IRAK1, IRAK4, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGB2, ITK, IVD, IVNS1ABP, JAGN1, JAK1, JAK3, KMT2D, KRAS, LAMTOR2, LAT, LCK, LEP, LIG1, LIG4, LPIN2, LRBA, LRRC56, LRRC8A, LYN, LYST, MAD2L2, MAGT1, MALT1, MAN2B1, MANBA, MAP3K14, MC2R, MCIDAS, MCM4, MEFV, MGP, MMAA, MMAB, MMACHC, MMUT, MOGS, MPL, MPO, MRTFA, MS4A1, MSN, MTHFD1, MVK, MYD88, MYSM1, NBAS, NBN, NCF2, NCF4, NCKAP1L, NFASC, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NGF, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NOD2, NOP10, NRAS, NSMCE3, OAS1, ODAD1, ODAD2, ODAD3, ODAD4, ORAI1, OSTM1, OTULIN, OXCT1, PALB2, PARN, PAX1, PCCA, PCCB, PEPD, PGM3, PI4KA, PIK3CD, PIK3R1, PLCG2, PLG, PLVAP, PMM2, PMS2, PNP, POLA1, POLD1, POLD2, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, PPP1R21, PRF1, PRKCD, PRKDC, PSMA3, PSMB4, PSMB8, PSMG2, PSTPIP1, PTPRC, RAB27A, RAC2, RAD50, RAD51, RAD51C, RAG1, RAG2, RASGRP1, RBCK1, RBM8A, REL, RELA, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOG, RHOH, RIPK1, RMRP, RNF113A, RNF168, RNF31, RORC, RPL11, RPL15, RPL18, RPL19, RPL26, RPL31, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, RPSA, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, SAMD9, SAMD9L, SAMHD1, SBDS, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEMA3E, SERAC1, SERPING1, SGPL1, SH2D1A, SH3KBP1, SKIC2, SKIC3, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC39A4,