Panel genetic cardiomiopatii

Panelul analizează un spectru extins de gene implicate în cardiomiopatii ereditare, incluzând cardiomiopatia dilatativă, hipertrofică, restrictivă și formele aritmogene sau sindromice. Testul permite identificarea cauzelor genetice ale afectării structurale și funcționale a miocardului, precum și a formelor asociate cu risc de insuficiență cardiacă, aritmii maligne sau moarte subită cardiacă.

Gene analizate

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, CYBC1, 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, 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, MRTFA, 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, TERT, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, TICAM1, TIMM50, TINF2, TLR3, TLR7, TMC6, TMC8, STING1, 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.