Broj gena
441
TAT (radni dani)
25
Metoda
NGS uključujući CNV analizu
Uzorak
Puna krv
Opis
CentoImmuno panel je posebno dizajniran da cilja gene povezane sa nasljednim greškama imunosti kod ljudi (IEI). Ove greške predstavljaju veliku i raznoliku grupu poremećaja koji dijele zajedničku kliničku karakteristiku: smanjenu urođenu i adaptivnu imunost.
Uzročne varijante gena uključenih u CentoImmuno najčešće dovode do osjetljivosti na infektivne bolesti, autoinflamatorne bolesti, neoplazme, autoimunitet ili alergije.
Geni
ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, AP1S3, AP3B1, AP3D1, APOL1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BRCA1, BRCA2, BRIP1, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CCBE1, CCDC39, CCDC40, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPE, CFAP298, CFAP300, CFB, CFD, CFH, CFHR1, CFI, CFP, CFTR, CHD7, CIB1, CIITA, CLCN7, CLPB, COG6, COPA, CORO1A, CR2, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, DBR1, DCLRE1B, DCLRE1C, DEF6, DIAPH1, DKC1, DNAAF1, DNAAF11, DNAAF19, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJC21, DNAL1, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DRC1, DRC2, DRC4, DSG1, EFL1, ELANE, EPG5, ERBIN, ERCC4, ERCC6L2, EXTL3, F12, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FCGR3A, FCHO1, FCN3, FERMT1, FERMT3, FNIP1, FOXN1, FOXP3, FPR1, G6PC3, G6PD, GAS2L2, GATA1, GATA2, GFI1, GINS1, GUCY2C, HAX1, HELLS, HMOX1, HYDIN, HYOU1, ICOS, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, 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, JAGN1, JAK1, JAK3, KDM6A, KMT2A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LIG1, LIG4, LPIN2, LRBA, LYST, MAD2L2, MAGT1, MALT1, MAP3K14, MASP2, MCIDAS, MCM4, MECOM, MEFV, MOGS, MPO, MS4A1, MSH6, MSN, MTHFD1, MVK, MYD88, MYSM1, NBAS, NBN, NCF1, NCF2, NCF4, NCKAP1L, NCSTN, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NOD2, NOP10, NRAS, NSMCE3, OAS1, ODAD1, ODAD2, ODAD3, ORAI1, OSTM1, OTULIN, PALB2, PARN, PAX1, PEPD, PGM3, PIK3CD, PIK3R1, PLCG2, PMM2, PMS2, PNP, POLA1, POLD1, POLD2, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, PRF1, PRKCD, PRKDC, PSENEN, PSMB8, PSMG2, PSTPIP1, PTEN, PTPRC, RAB27A, RAC2, RAD51, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, REL, RELA, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOG, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RNU4ATAC, RORC, RPSA, RSPH1, RSPH4A, RSPH9, RTEL1, SAMD9, SAMD9L, SAMHD1, SBDS, SEC61A1, SEMA3E, SERPING1, SH2D1A, SH3BP2, SH3KBP1, SKIC2, SKIC3, SLC29A3, SLC35C1, SLC39A4, SLC39A7, SLC46A1, SLC7A7, SLX4, SMARCAL1, SMARCD2, SNX10, SP110, SPAG1, SPINK5, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT5B, STIM1, STING1, STK36, STK4, STN1, STX11, STXBP2, TAFAZZIN, TAP1, TAP2, TAPBP, TBK1, TBX1, TCF3, TCIRG1, TCN2, TERC, TERT, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, TICAM1, TINF2, TIRAP, TLR3, TLR7, TMC6, TMC8, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TOP2B, TP53, TPP1, TPP2, TRAF3, TREX1, TRNT1, TTC7A, TYK2, UBE2T, UNC13D, UNC93B1, UNG, USB1, USP18, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, XK, XRCC2, ZAP70, ZBTB24, ZMYND10, ZNF341, ZNFX1