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Enfermedades inmunológicas

AGAMMAGLOBULINEMIA: 27 genes – Plazos de entrega: 3-4 semanas

BLM, BLNK, BTK, CCBE1, CD19, CD27, CD79A, CD79B, CD81, CDC42, DNMT3B, FAT4, GATA2, IGLL1, IRF4, KMT2A, LIG1, LRRC8A, MOGS, OAS1, PIK3CD, PIK3R1, SH2D1A, TCF3, TRNT1, XIAP, ZBTB24

DEFICIENCIA DEL COMPLEMENTO: 76 genes – Plazos de entrega: 3-4 semanas

ADIPOQ, ADIPOR1, ARMC4, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C3AR1, C4BPA, C5, C5AR2, C6, C7, C8A, C8B, C9, CCDC103, CCDC114, CCDC39, CCDC40, CCDC65, CCNO, CD46, CD55, CD59, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CLU, COLEC11, CR2, CRP, DGKE, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAL1, DRC1, FCN1, FCN2, FCN3, GAS2L2, HYDIN, LRRC6, MASP1, MASP2, MAT2A, NME8, OFD1, PIGA, RSPH1, RSPH4A, RSPH9, SERPING1, SPAG1, STK36, THBD, VSIG4, VTN, ZMYND10

DEFICIENCIA PRIMARIA DE ANTICUERPOS: 54 genes – Plazos de entrega: 3-4 semanas

ADA, AICDA, ATM, BLNK, BTK, CARD11, CD19, CD4, CD40, CD40LG, CD79A, CD79B, CD81, CR2, DCLRE1C, ICOS, IGLL1, IKBKG, IKZF1, IKZF3, IL21, IL2RG, INO80, LRBA, LRRC8A, MOGS, MRE11, MS4A1, MSH6, NBN, NFKB1, NFKB2, NFKBIA, PIK3CD, PIK3CG, PIK3R1, PLCG2, PRKCD, PTEN, PTPRC, RAC2, RAG1, RAG2, SH2D1A, SYK, TCF3, TLR7, TNFRSF13B, TNFRSF13C, TNFSF12, TRNT1, UNC119, UNG, XIAP

DISQUERATOSIS CONGÉNITA: 15 genes – Plazos de entrega: 3-4 semanas

AK2, CTC1, DKC1, GRHL2, LIG4, NHP2, NOP10, PARN, POT1, RTEL1, TERT, TINF2, TYMS, USB1, WRAP53

FALLO DE MÉDULA ÓSEA: 217 genes – Plazos de entrega: 3-4 semanas

ABCB7, ACTB, ADA2, ADAR, ADH5, AK2, ALAS2, ANKRD26, AP3B1, ATM, ATR, ATRX, BLM, BLOC1S3, BLOC1S6, BRAF, BRCA1, BRCA2, BRIP1, C15orf41, CARD11, CASP10, CBL, CD40, CD40LG, CDAN1, CDC42, CDKN2A, CEBPA, CEBPE, CENPJ, CEP152, CEP63, CHEK2, CLPB, CSF2RA, CSF3R, CTC1, CTLA4, CTSC, CXCR4, CYCS, DIAPH1, DKC1, DNASE2, DNMT3A, DTNBP1, DUT, EIF2AK3, ELANE, EPCAM, EPO, ERCC4, ERCC6, ERCC6L2, ETV6, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, G6PC, G6PC3, GATA1, GATA2, GFI1, GLRX5, GP1BA, GP1BB, GP9, GRHL2, GTF2H5, HAX1, HLTF, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HTRA2, IFNGR2, IKZF1, ITGA2B, ITGB3, ITK, JAGN1, JAK2, KDM1A, KIF23, KIT, KLF1, KRAS, LAMTOR2, LIG4, LYST, MAGT1, MAP2K1, MAP2K2, MASTL, MBD4, MDM4, MECOM, MLH1, MPL, MRE11, MRTFA, MSH2, MSH6, MYH9, MYO5A, NBN, NF1, NHEJ1, NHP2, NOP10, NPM1, NRAS, NSMCE3, PALB2, PARN, PAX5, PGM3, PIEZO1, PMS2, POT1, PRF1, PTPN11, PTPRJ, PUS1, RAB27A, RAC2, RAD23B, RAD51, RAD51C, RAD51D, RBBP8, RBM8A, RECQL4, RIT1, RNF168, RPL11, RPL15, RPL26, RPL27, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, RUNX1, SALL4, SAMD9, SBDS, SBF2, SEC23B, SETBP1, SH2B3, SH2D1A, SLC19A2, SLC25A38, SLC35C1, SLC37A4, SLC46A1, SLX4, SOS1, SRP72, STAT3, STIM1, STK4, STX11, STXBP2, SYK, TAZ, TBXAS1, TCIRG1, TCN2, TERT, TET2, THPO, TINF2, TLR8, TP53, TRNT1, TSR2, TUBB1, UBE2T, UNC13D, USB1, VPS13B, VPS45, WAS, WIPF1, WRAP53, XIAP, XRCC2, YARS2, ZCCHC8

FIEBRE PERIÓDICA: 17 genes – Plazos de entrega: 3-4 semanas

CARD14, ELANE, IL10RA, IL10RB, LPIN2, MEFV, MVK, NLRC4, NLRP12, NLRP3, NLRP7, NOD2, PSMB8, PSTPIP1, TNFAIP3, TNFRSF11A, TNFRSF1A

INMUNODEFICIENCIA COMBINADA SEVERA (SCID): 121 genes – Plazos de entrega: 3-4 semanas

ADA, AK2, ATM, B2M, BCL10, BLM, CARD11, CCBE1, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, CTC1, CTPS1, CXCR4, DCLRE1B, DCLRE1C, DKC1, DNMT3B, DOCK8, EPG5, ERCC6L2, EXTL3, FAT4, FOXN1, ICOS, IFNGR1, IKBKB, IKZF1, IL12RB1, IL21, IL21R, IL2RA, IL2RG, IL6R, IL6ST, IL7R, IRF8, ITGB2, ITK, JAK3, KDM6A, KMT2D, LCK, LIG1, LIG4, LRBA, MAGT1, MALT1, MAP3K14, MCM4, MTHFD1, NBN, NFE2L2, NFKBIA, NHEJ1, NHP2, NLRP2, NOP10, NSMCE3, ORAI1, PARN, PAX1, PGM3, PIK3CD, PMS2, PNP, POLD1, POLD2, POLE, POLE2, PRKDC, PTPRC, RAC2, RAG1, RAG2, REL, RFX5, RFXANK, RFXAP, RHOH, RNF168, RTEL1, SEMA3E, SH2D1A, SKIV2L, SLC46A1, SMARCAL1, SP110, SPINK5, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TBX1, TCN2, TERT, TFRC, TINF2, TNFRSF4, TP63, TTC37, TTC7A, TYK2, UNC119, WAS, WIPF1, ZAP70, ZBTB24

INMUNODEFICIENCIA COMÚN VARIABLE: 32 genes – Plazos de entrega: 3-4 semanas

CD19, CD27, CD81, CR2, CTLA4, CXCR4, DCLRE1C, ICOS, IKZF1, IL21, IL21R, JAK3, KDM6A, KMT2D, LRBA, MS4A1, NFKB1, NFKB2, NSMCE3, PIK3CD, PIK3R1, PLCG2, PRKCD, RAC2, RAG1, RAG2, STAT3, STXBP2, TNFRSF13B, TNFRSF13C, TNFSF12, TTC37

INMUNODEFICIENCIAS GLOBAL: 631 genes – Plazos de entrega: 3-4 semanas

ABCB1, ABCB7, ACP5, ACTB, ADA, ADA2, ADAM17, ADAMTS13, ADAR, ADH5, ADIPOQ, ADIPOR1, AGA, AICDA, AIRE, AK2, AKT1, ALAS2, ALG13, ALG6, ANGPT1, ANKRD26, AP1S3, AP3B1, AP3D1, AP4E1, APOA1, APOA2, APOL1, ARMC4, ASAH1, ATG16L1, ATM, ATP2A2, ATR, ATRX, B2M, BCL10, BLM, BLNK, BLOC1S3, BLOC1S6, BRAF, BRCA1, BRCA2, BRIP1, BTK, C15orf41, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C3AR1, C4BPA, C5, C5AR2, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD8, CARD9, CASP10, CASP8, CAVIN1, CBL, CCBE1, CCDC103, CCDC114, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD79A, CD79B, CD81, CD86, CD8A, CDAN1, CDC42, CDKN2A, CDKN2B, CEBPA, CEBPE, CENPJ, CEP152, CEP63, CFAP298, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHD7, CHEK2, CIITA, CLCN7, CLEC7A, CLNK, CLPB, CLU, COG6, COL7A1, COLEC11, COMT, CORO1A, CR2, CREBBP, CRP, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCL12, CXCR4, CYBA, CYBB, CYCS, CYP27A1, DCBLD2, DCLRE1B, DCLRE1C, DDX58, DEF6, DGAT1, DGKE, DHFR, DIAPH1, DKC1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAL1, DNASE1, DNASE1L3, DNASE2, DNM2, DNMT3A, DNMT3B, DOCK8, DRC1, DSG1, DTNBP1, DUOX2, DUT, EIF2AK3, ELANE, ELF4, EPCAM, EPG5, EPO, ERCC2, ERCC3, ERCC4, ERCC6, ERCC6L2, ETV6, EXTL3, F11, F12, F13A1, F13B, F5, F7, F8, F9, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FCGR3A, FCN1, FCN2, FCN3, FERMT1, FERMT3, FGA, FGB, FGG, FHL1, FOXN1, FOXP3, FPR1, G6PC, G6PC3, G6PD, GAS2L2, GATA1, GATA2, GFI1, GJC2, GLRX5, GP1BA, GP1BB, GP9, GRHL2, GTF2H5, GUCY2C, HAX1, HCLS1, HLTF, HMOX1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HTR1A, HTRA2, HYDIN, ICOS, IFIH1, IFNAR1, IFNAR2, IFNG, IFNGR1, IFNGR2, IGLL1, IKBKB, IKBKG, IKZF1, IKZF3, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17A, IL17F, IL17RA, IL1RN, IL2, IL21, IL21R, IL23R, IL2RA, IL2RG, IL36RN, IL6R, IL6ST, IL7, IL7R, INO80, INPP5D, INSR, INVS, IRAK1, IRAK4, IRF4, IRF5, IRF7, IRF8, IRF9, ISG15, ITCH, ITGA2B, ITGAM, ITGB2, ITGB3, ITK, JAGN1, JAK1, JAK2, JAK3, KAT6A, KDM1A, KDM6A, KIF23, KIT, KLF1, KMT2A, KMT2D, KRAS, LAMTOR2, LCK, LCT, LIG1, LIG4, LIPA, LPIN2, LRBA, LRRC6, LRRC8A, LTBP3, LYN, LYST, MAGT1, MALT1, MAN2B1, MANBA, MAP2K1, MAP2K2, MAP3K14, MASP1, MASP2, MASTL, MAT2A, MBD4, MBL2, MC2R, MCM4, MDM4, MECOM, MEFV, MLH1, MLPH, MOGS, MPL, MPLKIP, MPO, MRE11, MRTFA, MS4A1, MSH2, MSH5, MSH6, MTHFD1, MVK, MYD88, MYH9, MYO5A, MYO5B, NBAS, NBN, NCF1, NCF2, NCF4, NCSTN, NEUROG3, NF1, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NKX2-5, NLRC4, NLRP1, NLRP12, NLRP2, NLRP3, NLRP7, NME8, NOD2, NOP10, NPM1, NRAS, NSMCE3, OAS1, OFD1, ORAI1, ORC4, OSTM1, PALB2, PARN, PAX1, PAX5, PBX1, PCCA, PCCB, PDCD1, PEPD, PGM3, PI4KA, PICALM, PIEZO1, PIGA, PIK3CD, PIK3CG, PIK3R1, PLCG2, PLEKHM1, PLG, PML, PMM2, PMS2, PNLIP, PNP, POLA1, POLD1, POLD2, POLE, POLE2, POLR3A, POMP, POT1, PRF1, PRG4, PRKCD, PRKDC, PROC, PROS1, PRPS1, PSEN1, PSENEN, PSMB8, PSMB9, PSTPIP1, PTEN, PTPN11, PTPN22, PTPRC, PTPRJ, PUS1, RAB27A, RAC2, RAD23B, RAD50, RAD51, RAD51C, RAD51D, RAG1, RAG2, RANBP2, RASGRP1, RASGRP2, RBBP8, RBCK1, RBM8A, RC3H1, RDX, RECQL4, REL, RFX5, RFXANK, RFXAP, RHOG, RHOH, RIT1, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF168, RORC, RPGR, RPL11, RPL15, RPL26, RPL27, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RPSA, RRAS2, RSPH1, RSPH4A, RSPH9, RTEL1, RUNX1, SALL4, SAMD9, SAMHD1, SAR1B, SBDS, SBF2, SCO2, SEC23B, SEMA3E, SERAC1, SERPING1, SETBP1, SH2B3, SH2D1A, SH3BP2, SI, SIAE, SKIV2L, SLC10A2, SLC19A2, SLC25A38, SLC26A3, SLC29A3, SLC35A1, SLC35C1, SLC37A4, SLC39A4, SLC46A1, SLC5A1, SLC7A7, SLC9A3, SLX4, SMARCAL1, SNX10, SOCS1, SOS1, SP110, SPAG1, SPINK5, SPINT2, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STK11, STK36, STK4, STX11, STXBP2, SYK, TAP1, TAP2, TAPBP, TAZ, TBK1, TBX1, TBX21, TBXAS1, TCF3, TCF7L1, TCIRG1, TCN2, TERT, TET2, TFRC, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THBD, THPO, TICAM1, TIMM8A, TINF2, TIRAP, TLR3, TLR4, TLR7, TLR8, TMC6, TMC8, TMEM173, TMPRSS15, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF10, TNFSF11, TNFSF12, TNFSF13B, TP53, TP63, TPP1, TPP2, TRADD, TRAF3, TRAF3IP2, TRAP1, TREX1, TRIM22, TRNT1, TSR2, TTC37, TTC7A, TUBB1, TYK2, UBA1, UBE2T, UNC119, UNC13D, UNC93B1, UNG, USB1, USP1, VPS13B, VPS45, VSIG4, VTN, WAS, WIPF1, WRAP53, XBP1, XIAP, XK, XRCC2, XRCC4, XRCC5, YARS2, ZAP70, ZBTB24, ZCCHC8, ZMYND10

LINFOHISTIOCITOSIS HEMOFAGOCÍTICA FAMILIAR: 82 genes – Plazos de entrega: 3-4 semanas

ABCB1, ADA, AIRE, AP3B1, AP3D1, ATG16L1, ATM, BLOC1S6, BTK, CARD8, CASP10, CASP8, CD27, CD3E, CDC42, CORO1A, CTLA4, CTPS1, CYBA, CYBB, DEF6, DKC1, DSG1, FAAP24, FADD, FAS, FASLG, FERMT1, GATA2, IKBKG, IL10, IL10RA, IL10RB, IL2RA, IL2RG, IRF5, ITCH, ITK, JAK1, LIPA, LRBA, LYST, MAGT1, MEFV, MVK, MYO5A, NCF1, NFAT5, NLRC4, NLRP3, ORAI1, PEPD, PIK3CD, PIK3CG, PNP, PRF1, PRKCD, RAB27A, RAG1, RAG2, RASGRP1, RC3H1, RECQL4, RHOG, SH2D1A, SLC7A7, SOCS1, STAT1, STAT2, STAT3, STX11, STXBP2, TBXAS1, TCN2, TET2, TGFB1, TNFRSF1A, TNFRSF9, TPP2, UNC13D, WAS, XIAP

NEUTROPENIA CONGÉNITA Y DESÓRDENES FAGOCÍTICOS: 78 genes – Plazos de entrega: 3-4 semanas

ACTB, AK2, AP3B1, AP3D1, ASAH1, BTK, CD40, CD40LG, CDC42, CEBPE, CFTR, CLPB, CSF2RA, CSF2RB, CSF3R, CTSC, CXCR4, CYBA, CYBB, DGAT1, DKC1, DNM2, EIF2AK3, ELANE, ERCC2, ERCC3, FERMT3, FOXP3, FPR1, G6PC, G6PC3, G6PD, GATA1, GATA2, GFI1, GTF2H5, GUCY2C, HAX1, HTRA2, IFNG, IFNGR2, IL6ST, IRAK4, ITGB2, JAGN1, KAT6A, LAMTOR2, LPIN2, LYST, MRTFA, MTHFD1, NCF1, NCF2, NCF4, PGM3, PMM2, RAB27A, RAC2, RUNX1, SBDS, SLC35C1, SLC37A4, SPINK5, SRP72, STAT3, STK4, TAZ, TCIRG1, TCN2, TERT, TFRC, TNFSF12, TP53, USB1, VPS13B, VPS45, WAS, WIPF1

SÍNDROME DE HIPER IgM: 11 genes – Plazos de entrega: 3-4 semanas

AICDA, ATM, BTK, CD40, CD40LG, MRE11, NBN, NFKBIA, PIK3CD, PIK3R1, SH2D1A, UNG

SÍNDROME LINFOPROLIFERATIVO AUTOINMUNE: 38 genes – Plazos de entrega: 3-4 semanas

ADA2, AICDA, CARD11, CASP10, CASP8, CD40LG, CTLA4, DEF6, FADD, FAS, FASLG, IL2RA, ITK, KRAS, LRBA, LYST, MAGT1, MYO5A, NRAS, PIK3CD, PIK3R1, PRF1, PRKCD, RAB27A, RASGRP1, RECQL4, SH2D1A, STAT3, STK4, STX11, STXBP2, TET2, TNFAIP3, TNFRSF9, TPP2, UNC13D, WAS, XIAP

SINDROMES AUTOINFLAMATORIOS: 112 genes – Plazos de entrega: 3-4 semanas

ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, ANGPT1, AP1S3, AP3B1, ASAH1, BLOC1S6, BTK, CARD14, CD27, CD3G, CD40LG, CDC42, COL7A1, CTLA4, CYBA, CYBB, DCLRE1C, DDX58, DKC1, DNASE1L3, DNASE2, DOCK8, ELANE, FOXP3, G6PC3, HAX1, HTR1A, ICOS, IFIH1, IL10, IL10RA, IL10RB, IL1RN, IL21, IL2RA, IL2RG, IL36RN, ISG15, ITGB2, ITK, JAK1, LIG4, LPIN2, LRBA, LYST, MEFV, MVK, NCF2, NCF4, NCSTN, NFAT5, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NOD2, OAS1, PIK3CD, PIK3R1, PLCG2, POLA1, POMP, PRF1, PRG4, PRKCD, PSENEN, PSMB8, PSMB9, PSTPIP1, RAB27A, RAG1, RAG2, RBCK1, RNASEH2A, RNASEH2B, RNASEH2C, RTEL1, SAMHD1, SH2D1A, SH3BP2, SLC29A3, SLC37A4, SLC7A7, SOCS1, STAT1, STAT2, STAT3, STIM1, STX11, STXBP2, TBX21, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF1A, TRAP1, TREX1, TRIM22, TRNT1, TTC7A, UBA1, UNC13D, USP1, WAS, XIAP, ZAP70

SUSCEPTIBILIDAD MENDELIANA A ENFERMEDADES MICOBACTERIANAS: 17 genes – Plazos de entrega: 3-4 semanas

CSF2RA, CYBB, GATA2, IFNGR1, IFNGR2, IKBKG, IL12B, IL12RB1, IL12RB2, IRAK4, IRF8, ISG15, JAK1, NFKBIA, RORC, STAT1, TYK2

BUSCADOR POR ENFERMEDAD O GEN