Inmunodeficiencias combinadas con características sindrómicas asociadas
Catálogo: Catálogo genética médica con informe
Referencia: LV4990
Especialidad: Inmunología
Secuenciación masiva y cribado bioinformático de CNVs, panel de 70 genes: ARPC1B, ATM, BCL11B, BLM, BLOC1S3, CARD11, CCBE1, CDCA7, CHD7, DNMT3B, DTNBP1, EPG5, ERBIN, ERCC6L2, EXTL3, FAT4, FOXN1, GINS1, HELLS, HPS3, HPS4, HPS5, HPS6, IKBKB, IL6R, IL6ST, KDM6A, KMT2A, KMT2D, LIG1, MCM10, MCM4, MTHFD1, MYSM1, NBN, NFE2L2, NFKBIA, NFKBIB, NSMCE3, ORAI1, PGM3, PMS2, PNP, POLE, POLE2, RBCK1, RIGI, RMRP, RNF168, RNF31, SEMA3E, SKIC2, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, SKIC3, TBX1, TCN2, TGFBR1, TGFBR2, TTC7A, WAS, WIPF1, ZBTB24, ZNF341, ZNFX1
Inmunodeficiencias primarias
Catálogo: Catálogo genética médica con informe
Referencia: LV4992
Especialidad: Inmunología
Secuenciación masiva y cribado bioinformático de CNVs, panel de 337 genes: ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, ALPI, ANGPT1, AP1S3, AP3B1, AP3D1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CCBE1, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD4, CD40, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPE, CFB, CFD, CFH, CFI, CFP, CFTR, CHD7, CIB1, CIITA, CLPB, COL7A1, COPA, CORO1A, CR2, CSF2RA, CSF3R, CSF2RB, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DBR1, DCLRE1B, DCLRE1C, DEF6, DNAJC21, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DOCK11, EFL1, ELANE, ELF4, EPG5, ERBIN, ERCC6L2, EXTL3, FADD, FAS, FASLG, FAT4, FCGR3A, FCHO1, FERMT1, FERMT3, FNIP1, FOXN1, FOXP3, FPR1, G6PC3, G6PD, SLC37A4, GATA2, GFI1, GINS1, GUCY2C, HAVCR2, HAX1, HELLS, HPS4, HPS6, ICOS, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGLL1, IKBKB, IKZF1, IKZF3, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, INO80, IRAK4, IRF3, IRF7, IRF8, IRF9, ISG15, ITCH, ITGB2, ITK, IVNS1ABP, JAGN1, JAK3, KDM6A, KMT2A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LCP2, LIG1, LIG4, LPIN2, LRBA, LYST, MAGT1, MALT1, MAP3K14, MCM4, MEFV, MOGS, MPEG1, MSN, MTHFD1, MVK, MYD88, MYSM1, NBN, NCF1, NCF2, NCF4, NCKAP1L, NCSTN, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NLRC4, NLRP1, NLRP12, NLRP2, NLRP3, NOD2, NRAS, NSMCE3, OAS1, ORAI1, OTULIN, PAX1, PEPD, PGM3, PIK3CD, PIK3CG, PIK3R1, PLCG2, PNP, POLA1, POLD1, POLD2, POLE, POLR3A, POLR3C, PRF1, PRKCD, PRKDC, PSENEN, PSMB8, PSTPIP1, PTEN, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, RBCK1, REL, RELA, RELB, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RORC, RPSA, SAMHD1, SASH3, SBDS, SEC61A1, SERPING1, SH2D1A, SKIC2, SLC29A3, SLC35C1, SLC39A7, SLC46A1, SLC7A7, SCIMP, SMARCAL1, SMARCD2, SOCS1, SP110, SPINK5, SPPL2A, SRP54, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, SYK, TAP1, TAP2, TAPBP, TAFAZZIN, TBK1, TBX1, TCF3, TCN2, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, TICAM1, TLR3, TLR7, TLR8, TMC6, TMC8, TNFAIP3, TNFRSF11A, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, CD40LG, TOP2B, TPP2, TRAF3IP2, TREX1, TRIM22, TRNT1, SKIC3, TTC7A, TYK2, UNC13D, UNC93B1, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, WIPF1, XIAP, ZAP70, ZBTB24, ZNF341, ZNFX1
