SEQUENCIAMENTO DE NOVA GERAÇÃO (NGS) E CNV
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,