Primary Immunodeficiency and Malignancy Predisposition Panel

نام های دیگر در خواست

ABCB7, ABCG5, ABCG8, ACD, ACP5, ACTB, ACTN1, ADA, ADA2, ADAM17, ADAMTS13, ADAMTS3, ADAR, ADIPOQ, ADIPOR1, ADIPOR2, AICDA, AIRE, AK2, ALAS2, ALG6, ALPI, ANGPT1, ANKRD26, ANKZF1, AP1S3, AP3B1, AP3D1, APOA1, APOA2, APOL1, ARHGEF1, ARPC1B, ASAH1, ATM, ATP6AP1, ATR, ATRX, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BRAF, BRCA1, BRCA2, BRIP1, BTK, C1QA, C1QB, C1QBP, C1QC, C1R, C1S, C2, C3, C3AR1, C4BPA, C4BPB, C5, C5AR1, C5AR2, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD8, CARD9, CARMIL2, CASP10, CASP8, CAVIN1, CBL, CCBE1, CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CD93, CDAN1, CDC42, CDCA7, CDIN1, CDK9, CDKN2A, CEBPA, CEBPE, CENPF, CFAP298, CFAP300, CFB, CFD, CFH, CFI, CFP, CFTR, CHD7, CHEK2, CIB1, CIITA, CLCN7, CLEC7A, CLPB, CLU, COG6, COL7A1, COLEC11, COPA, CORO1A, CR2, CREBBP, CRP, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, CYCS, CYP27A1, DBR1, DCLRE1B, DCLRE1C, DDX11, DDX41, DEF6, DGAT1, DGKE, DHFR, DIAPH1, DKC1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJC21, DNAL1, DNASE1L3, DNASE2, DNMT3A, DNMT3B, DOCK2, DOCK8, DRC1, DSG1, DTNBP1, DUOX2, EBF1, EFL1, EIF2AK3, ELANE, EPCAM, EPG5, EPO, ERBIN, ERCC2, ERCC3, ERCC4, ERCC6L2, ETV6, EXTL3, F11, F13A1, F13B, F5, F7, F8, F9, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FCHO1, FCN1, FCN2, FCN3, FERMT1, FERMT3, FGA, FGB, FLI1, FOXI3, FOXJ1, FOXN1, FOXP3, FPR1, FYB1, G6PC1, G6PC3, G6PD, GAS2L2, GAS8, GATA1, GATA2, GFI1, GFI1B, GINS1, GLRX5, GP1BA, GP1BB, GP9, GTF2E2, GTF2H5, GUCY2C, HAX1, HELLS, HLTF, HMOX1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HSPA9, HTRA2, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGKC, IGLL1, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL1RN, IL2, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, INO80, INSR, INVS, IRAK1, IRAK4, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGA2, ITGA2B, ITGAM, ITGB2, ITGB3, ITK, IVNS1ABP, JAGN1, JAK1, JAK2, JAK3, KCNN4, KDM1A, KDM6A, KIF23, KIT, KLF1, KLHDC8B, KMT2A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LCT, LIG1, LIG4, LIPA, LPIN2, LRBA, LRRC56, LRRC8A, LYN, LYST, MAD2L2, MAGT1, MALT1, MAN2B1, MANBA, MAP3K14, MASP1, MASP2, MASTL, MAT2A, MBD4, MBL2, MC2R, MCIDAS, MCM4, MECOM, MEFV, MLH1, MLPH, MOGS, MPIG6B, MPL, MPLKIP, MPO, MRE11, MRTFA, MS4A1, MSH2, MSH6, MSN, MTHFD1, MVK, MYD88, MYH9, MYO5A, MYO5B, MYSM1, NAF1, NBAS, NBEAL2, NBN, NCF2, NCF4, NCSTN, NEUROG3, NF1, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NKX2-5, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NOD2, NOP10, NPAT, NPM1, NRAS, NSMCE3, OAS1, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, ORAI1, OSTM1, OTULIN, PALB2, PARN, PAX1, PAX5, PCCA, PCCB, PEPD, PGM3, PI4KA, PIEZO1, PIGA, PIK3CD, PIK3R1, PLCG2, PLG, PMM2, PMS2, PNP, POLA1, POLD1, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, POT1, PRF1, PRG4, PRKACG, PRKCD, PRKDC, PROC, PROS1, PSENEN, PSMA3, PSMB4, PSMB8, PSMG2, PSTPIP1, PTEN, PTPN11, PTPRC, PTPRU, PTX3, PUS1, RAB27A, RAC2, RAD23B, RAD50, RAD51, RAD51C, RAD51D, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RBM8A, RECQL4, RELA, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOG, RHOH, RIGI, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF168, RNF31, RNU4ATAC, RORC, RPGR, RPL11, RPL15, RPL17, RPL18, RPL19, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL36, RPL5, RPS10, RPS14, RPS15, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RPSA, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, RUNX1, SAMD14, SAMD9, SAMD9L, SAMHD1, SAR1B, SBDS, SBF2, SCO2, SEC23B و ABCB7, ABCG5, ABCG8, ACD, ACP5, ACTB, ACTN1, ADA, ADA2, ADAM17, ADAMTS13, ADAMTS3, ADAR, ADIPOQ, ADIPOR1, ADIPOR2, AICDA, AIRE, AK2, ALAS2, ALG6, ALPI, ANGPT1, ANKRD26, ANKZF1, AP1S3, AP3B1, AP3D1, APOA1, APOA2, APOL1, ARHGEF1, ARPC1B, ASAH1, ATM, ATP6AP1, ATR, ATRX, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BRAF, BRCA1, BRCA2, BRIP1, BTK, C1QA, C1QB, C1QBP, C1QC, C1R, C1S, C2, C3, C3AR1, C4BPA, C4BPB, C5, C5AR1, C5AR2, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD8, CARD9, CARMIL2, CASP10, CASP8, CAVIN1, CBL, CCBE1, CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CD93, CDAN1, CDC42, CDCA7, CDIN1, CDK9, CDKN2A, CEBPA, CEBPE, CENPF, CFAP298, CFAP300, CFB, CFD, CFH, CFI, CFP, CFTR, CHD7, CHEK2, CIB1, CIITA, CLCN7, CLEC7A, CLPB, CLU, COG6, COL7A1, COLEC11, COPA, CORO1A, CR2, CREBBP, CRP, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, CYCS, CYP27A1, DBR1, DCLRE1B, DCLRE1C, DDX11, DDX41, DEF6, DGAT1, DGKE, DHFR, DIAPH1, DKC1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJC21, DNAL1, DNASE1L3, DNASE2, DNMT3A, DNMT3B, DOCK2, DOCK8, DRC1, DSG1, DTNBP1, DUOX2, EBF1, EFL1, EIF2AK3, ELANE, EPCAM, EPG5, EPO, ERBIN, ERCC2, ERCC3, ERCC4, ERCC6L2, ETV6, EXTL3, F11, F13A1, F13B, F5, F7, F8, F9, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FCHO1, FCN1, FCN2, FCN3, FERMT1, FERMT3, FGA, FGB, FLI1, FOXI3, FOXJ1, FOXN1, FOXP3, FPR1, FYB1, G6PC1, G6PC3, G6PD, GAS2L2, GAS8, GATA1, GATA2, GFI1, GFI1B, GINS1, GLRX5, GP1BA, GP1BB, GP9, GTF2E2, GTF2H5, GUCY2C, HAX1, HELLS, HLTF, HMOX1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HSPA9, HTRA2, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGKC, IGLL1, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL1RN, IL2, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, INO80, INSR, INVS, IRAK1, IRAK4, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGA2, ITGA2B, ITGAM, ITGB2, ITGB3, ITK, IVNS1ABP, JAGN1, JAK1, JAK2, JAK3, KCNN4, KDM1A, KDM6A, KIF23, KIT, KLF1, KLHDC8B, KMT2A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LCT, LIG1, LIG4, LIPA, LPIN2, LRBA, LRRC56, LRRC8A, LYN, LYST, MAD2L2, MAGT1, MALT1, MAN2B1, MANBA, MAP3K14, MASP1, MASP2, MASTL, MAT2A, MBD4, MBL2, MC2R, MCIDAS, MCM4, MECOM, MEFV, MLH1, MLPH, MOGS, MPIG6B, MPL, MPLKIP, MPO, MRE11, MRTFA, MS4A1, MSH2, MSH6, MSN, MTHFD1, MVK, MYD88, MYH9, MYO5A, MYO5B, MYSM1, NAF1, NBAS, NBEAL2, NBN, NCF2, NCF4, NCSTN, NEUROG3, NF1, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NKX2-5, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NOD2, NOP10, NPAT, NPM1, NRAS, NSMCE3, OAS1, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, ORAI1, OSTM1, OTULIN, PALB2, PARN, PAX1, PAX5, PCCA, PCCB, PEPD, PGM3, PI4KA, PIEZO1, PIGA, PIK3CD, PIK3R1, PLCG2, PLG, PMM2, PMS2, PNP, POLA1, POLD1, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, POT1, PRF1, PRG4, PRKACG, PRKCD, PRKDC, PROC, PROS1, PSENEN, PSMA3, PSMB4, PSMB8, PSMG2, PSTPIP1, PTEN, PTPN11, PTPRC, PTPRU, PTX3, PUS1, RAB27A, RAC2, RAD23B, RAD50, RAD51, RAD51C, RAD51D, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RBM8A, RECQL4, RELA, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOG, RHOH, RIGI, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF168, RNF31, RNU4ATAC, RORC, RPGR, RPL11, RPL15, RPL17, RPL18, RPL19, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL36, RPL5, RPS10, RPS14, RPS15, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RPSA, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, RUNX1, SAMD14, SAMD9, SAMD9L, SAMHD1, SAR1B, SBDS, SBF2, SCO2, SEC23B, SEC61A1, SEMA3E, SEPTIN6, SERPING1, SETBP1, SH2B3, SH2D1A, SH3BP2 SH3KBP1, SI, SIAE, SKIC2, SKIC3, SLC10A2, SLC19A2, SLC25A38, SLC26A3, SLC29A3, SLC35A1, SLC35C1, SLC37A4, SLC39A4, SLC39A7, SLC46A1, SLC5A1, SLC7A7, SLC9A3, SLX4, SMARCAL1, SMARCD2, SNX10, SP110, SPAG1, SPINK5, SPINT2, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STING1, STK36, STK4, STN1, STX11, STX3, STXBP2, TAFAZZIN, TAOK2, TAP1, TAP2, TAPBP, TBK1, TBX1, TBXAS1, TCF3, TCIRG1, TCN2, TERC, TERF2IP, TERT, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, THPO, TICAM1, TIMM50, TINF2, TIRAP, TLR3, TMC6, TMC8, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF6B, TNFRSF9, TNFSF11, TNFSF12, TONSL, TOP2B, TP53, TP63, TPP1, TPP2, TRAC, TRADD, TRAF3, TRAF3IP2, TREX1, TRNT1, TSR2, TTC12, TTC7A, TUBB1, TYK2, UBA1, UBE2T, UNC119, UNC13D, UNC45A, UNC93B1, UNG, USB1, USP18, VAV1, VPS13B, VPS45, VSIG4, VTN, WAS, WDR1, WIPF1, WRAP53, XIAP, XK, XRCC2, ZAP70, ZBTB24, ZCCHC8, ZMYND10, ZNF341, ZNFX1, SEC61A1, SEMA3E, SEPTIN6, SERPING1, SETBP1, SH2B3, SH2D1A, SH3BP2

روش انجام

مولکولی

توضیح تست

استخراج DNA و توالی یابی کل ژن های کد کننده پروتئین در ژنوم و تشخیص CNV در گروه ژنی هدف

اهمیت بالینی

نقص ایمنی اولیه (PID) ، گروهی ناهمگن از اختلالات با بروز تقریبا 1 در 1000 تا 1 در 5000 تولد می باشد. PID ها انواع مختلفی از زیر کلاس های اختلال از جمله کمبود آنتی بادی، اختلالات خود التهابی، نقص ایمنی ترکیبی، بیماری های اختلالات ایمنی، نقص های مادرزادی در عملکرد یا تعداد فاگوسیت ها، نقص در ایمنی ذاتی، کمبود مکمل، و خطاهای ایمنی ذاتی را در بر می گیرند. این آزمایش شامل ژن‌هایی است که از طریق متون، OMIM و جستجوهای HGMD شناسایی شده‌اند که ارتباط گزارش شده با PID و استعداد بدخیمی لنفوئیدی دارند. علاوه بر این، این پانل شامل ژن‌های مرتبط با انواع نقص ایمنی اولیه است که توسط اتحادیه بین‌المللی انجمن‌های ایمونولوژیک کمیته بیماری‌های اولیه نقص ایمنی نیز توصیف شده است.

نمونه مورد نیاز

۵ سی سی خون محیطی حاوی ماده ضد انعقاد EDTA و یا بافت تازه/ پارافینه

نحوه ی نگهداری و ارسال نمونه

ارسال نمونه بدون آسیب در شرایط یخچالی

زمان جوابدهی

70روز کاری

کد تست

31137

هزینه انجام تست

181523500