Panel Errores Congénitos de la Inmunidad (IEI/IDP) NGS 381 genes

Qué es

Secuenciación mediante NGS de los siguientes genes (381): ADA, AICDA, AIRE, AK2, AP3B1, ATP6AP1, B2M, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C5, C6, C7, C8A, C8B, C9, CARD10, CARD11, CARD9, CARMIL2, CD19, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CFB, CFD, CFH, CFHR1, CFHR3, CFHR5, CFI, CFP, CFTR, CIITA, CORO1A, CSF2RA, CSF2RB, CSF3R, CTNNBL1, CXCR4, CYBA, CYBB, DCLRE1C, DGKE, DNAJC21, DOCK2, DOCK8, ELANE, FERMT3, FNIP1, FOXN1, G6PC3, GATA1, GATA2, GINS1, HAX1, IFNGR1, IFNGR2, IGHM, IGKC, IKBKB, IKZF1, IL12B, IL12RB1, IL17RA, IL17RC, IL2RA, IL2RB, IL2RG, IL7R, IRAK4, ISG15, ITGB2, IVNS1ABP, JAGN1, JAK3, KNSTRN, LCP2, LIG4, LRBA, MALT1, MCM10, MSN, MYD88, NCF1, NCF2, NCKAP1L, NFKB1, NFKB2, NHEJ1, NLRP1, PDCD1, PI4KA, PIK3CD, PIK3R1, PRKDC, PTPRC, RAG1, RAG2, RBCK1, RFX5, RFXANK, RFXAP, RORC, RPSA, SBDS, SIK3, SMARCAL1, SMARCD2, STAT1, STAT2, STAT3, SYK, TAP1, TAP2, TBX2, TMC6, TNFRSF13B, TYK2, UNG, VPS13B, VPS45, WAS, ZAP70, ZNF699, ACD, ACP5, ADA2, ADAMTS13, AP3D1, ARPC1B, ASAH1, ATG4A, ATM, BCL10, BCL11B, BLM, BLNK, C17orf62, C4A, C4B, CASP8, CCBE1, CD247, CD27, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPE, CHD7, CLCN7, CLEC7A, CLPB, CPT2, CR2, CTC1, CTLA4, CTPS1, CTSC, DDX41, DKC1, DNMT3B, EPG5, ERBIN, ERCC6L2, EXTL3, F12, FCGR3A, FCHO1, FCN3, FOXP3, G6PD, GFI1, HELLS, HMOX1, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR2, IFNG, IGLL1, IKBKG, IL10RB, IL12RB2, IL17F, IL18BP, IL21, IL21R, IL6, IL6R, IL6ST, IRF2BP2, IRF3, IRF7, IRF8, JAK1, KDM6A, KMT2A, KMT2D, LAMTOR2, LAT, LCK, LIG1, LRRC8A, LYST, MAGT1, MAP1LC3B2, MAP3K14, MAPK8, MASP2, MBL2, MCM4, MKL1, MMACHC, MOGS, MS4A1, MTHFD1, MYSM1, NBAS, NBN, NCF4, NCSTN, NFE2L2, NFKBIA, NHP2, NOP10, NOS2, NSMCE3, ORAI1, OSTM1, PARN, PAX1, PGM3, PIK3CG, PLCG2, PLEKHM1, PNP, POLR3A, POLR3C, POLR3F, PRPS1, PSENEN, PTEN, RAC2, RASGRP1, RELA, RELB, RHOH, RIPK1, RMRP, RNF168, RNU4ATAC, RTEL1, SEC61A1, SEMA3E, SERPING1, SH3KBP1, SLC35C1, SLC37A4, SLC46A1, SNX10, SPINK5, SRP54, STAT5B, STIM1, STK4, TAPBP, TAZ, TBK1, TBX1, TBX21, TCF3, TCIRG1, TCN2, TERC, TERT, TFRC, TICAM1, TINF2, TIRAP, TLR3, TMC8, TNFRSF11A, TNFRSF13C, TNFRSF4, TNFRSF9, TNFSF11, TOM1, TOP2B, TPP2, TRAF3IP2, TRIM22, TRNT1, TTC37, TTC7A, UNC119, USB1, WDR1, WIPF1, WRAP53, ZBTB24, ZNF341, ZNFX1, ACTB, ANGPT1, APOL1, ARHGEF1, BACH2, BLOC1S6, C8G, CCL2, CFHR2, CFHR4, CLEC16A, DBR1, DCLRE1B, EFL1, FPR1, ICAM1, IFNAR1, IL10, IL10RA, IL23R, INO80, IRAK1, IRF9, ITPKB, MASP1, MC3R, MCM2, MPO, MSH6, NFAT5, NOD2, PHF11, PLG, PMS2, POLD1, POLD2, POLE, POLE2, RANBP2, REL, RNF31, SAMD9, SAMD9L, SGPL1, SLC11A1, SLC39A7, SP110, SPATA5, SPPL2A, STN1, THBD, TLR1, TLR2, TLR5, TLR7, TLR8, TLR9, TNFSF12, TNFSF13, TRAF1, TRAF2, TRAF3, UNC93B1, VTN realizado en HEALTHINCODE. Plazo de entrega: 25 días. (S-202110259).

Muestra

Sangre total (EDTA)

Laboratorio

Reference Laboratory (puede variar según el punto de extracción)

Plazo orientativo

25 días