Panel genetic Imunodeficiente primare

Acest panel analizează simultan 429 de gene implicate în funcția și dezvoltarea sistemului imunitar, detectând variante genetice responsabile pentru imunodeficiențe primare.

Genele incluse:

ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAR, ADGRE2, AICDA, AIRE, AK2, ALG6, ALPK1, ANGPT1, ANKZF1, AP3B1, AP3D1, ARHGEF1, ARPC1B, ASAH1, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BTK, C17orf62, C1QA, C1QB, C1QC, C1S, C2, C3, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD8, CARD9, CARMIL2, CASP10, CASP8, CBL, CCBE1, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPE, CFB, CFD, CFH, CFI, CFP, CHD7, CIB1, CIITA, CLCN7, CLPB, COL7A1, COPA, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYP27A1, DBR1, DCLRE1C, DDX58, DEF6, DGAT1, DIAPH1, DKC1, DNAJC21, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DSG1, DTNBP1, DUOX2, EFL1, EIF2AK3, ELANE, EPG5, ERBIN, ERCC2, ERCC3, ERCC6L2, EXTL3, FADD, FANCA, FANCB, FANCE, FANCF, FANCI, FANCL, FAS, FASLG, FAT4, FCHO1, FERMT1, FERMT3, FNIP1, FOXI3, FOXN1, FOXP3, FPR1, G6PC, G6PC3, G6PD, GATA1, GATA2, GFI1, GINS1, GTF2E2, GTF2H5, GUCY2C, HAX1, HELLS, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, HTRA2, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL18BP, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, IRAK4, IRF2BP2, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGAM, ITGB2, ITK, JAGN1, JAK1, JAK3, KAT6A, KDM6A, KMT2A, KMT2D, LAMTOR2, LAT, LCK, LCT, LIG1, LIG4, LIPA, LPIN2, LRBA, LRRC8A, LYN, LYST, MAD2L2, MAGT1, MALT1, MAP3K14, MCM4, MEFV, MKL1, MOGS, MPLKIP, MS4A1, MSN, MTHFD1, MVK, MYD88, MYO5B, MYSM1, NBAS, NBN, NCF2, NCF4, NCKAP1L, NCSTN, NEUROG3, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOP10, NSMCE3, OAS1, ORAI1, OSTM1, OTULIN, PARN, PAX1, PEPD, PGM3, PIK3CD, PIK3R1, PLCG2, PLVAP, PMM2, PNLIP, PNP, POLA1, POLD1, POLD2, POLE, POLE2, POLR3A, POLR3F, POMP, PRF1, PRKCD, PRKDC, PSENEN, PSMA3, PSMB4, PSMB8, PSMG2, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, REL, RELA, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF168, RNF31, RNU4ATAC, RORC, RPSA, RTEL1, SAMD9, SAMD9L, SAMHD1, SAR1B, SCO2, SEC61A1, SEMA3E, SERPING1, SGPL1, SH2D1A, SH3BP2, SH3KBP1, SI, SIAE, SKIV2L, SLC10A2, SLC26A3, SLC29A3, SLC35C1, SLC37A4, SLC39A7, SLC46A1, SLC51B, SLC5A1, SLC7A7, SLC9A3, SLX4, SMARCAL1, SMARCD2, SNX10, SP110, SPINK5, SPINT2, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STK4, STN1, STX11, STX3, STXBP2, TAOK2, TAP1, TAP2, TAPBP, TAZ, TBX1, TCF3, TCIRG1, TCN2, TERC, TERT, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, TICAM1, TIMM50, TINF2, TLR3, TLR7, TMC6, TMC8, TMEM173, TMPRSS15, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF6B, TNFRSF9, TNFSF11, TNFSF12, TONSL, TOP2B, TP63, TPP2, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC13D, UNC45A, UNC93B1, UNG, USB1, VAV1, VPS13B, VPS45, WAS, WDR1, WIPF1, WNT2B, WRAP53, XIAP, ZAP70, ZBTB24, ZCCHC8, ZNF341