Hemato-NGS

Doenças hematológicas e imunológicas - sequenciamento - 425 genes

Painel ampliado para a investigação de genes previamente associados a plaquetopenia hereditária, síndrome de hiper IgE, doença autoinflamatória, imunodeficiência grave combinada (SCID), citopenias e anemias congênitas, febres periódicas, deficiência do complemento hereditárias, agamaglobulinemia, anemia de Fanconi, entre outros.

ABCB7, ABCG5, ABCG8, ACD, ACP5, ACTN1, ACVRL1, ADA, ADA2, ADAMTS13, ADAR, AICDA, AIRE, AK1, AK2, ALAS2, ALDOA, AMN, ANK1, ANKRD26, ANO6, AP3B1, AP3D1, APOA1, APOA2, APOC2, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BLM, BLNK, BLOC1S3, BLOC1S6, BRCA1, BRCA2, BRIP1, BTK, C15orf41, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CCBE1, CD19, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CDAN1, CDC42, CDCA7, CEBPE, CFD, CFH, CFI, CFP, CHD7, CHST14, CIITA, CLPB, COL1A1, COL5A1, COL5A2, COPA, CORO1A, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CUBN, CXCR4, CYBA, CYBB, CYCS, DCLRE1B, DCLRE1C, DHFR, DIAPH1, DKC1, DNAJC21, DNASE2, DNMT3B, DOCK2, DOCK8, DTNBP1, ELANE, ENG, EPB41, EPB42, EPG5, ERCC4, ERCC6L2, ETV6, EXTL3, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS, FASLG, FAT4, FERMT3, FGA, FGB, FGG, FLI1, FLNA, FOXN1, FOXP3, FYB1, G6PC3, G6PD, GATA1, GATA2, GBA, GCLC, GFI1, GFI1B, GGCX, GINS1, GLRX5, GNE, GP1BA, GP1BB, GP6, GP9, GSN, GSS, HAX1, HBA1, HBA2, HBB, HELLS, HK1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRG, HTRA2, ICOS, IFIH1, IFNGR1, IFNGR2, IGLL1, IKBKB, IKBKG, IKZF1, IKZF5, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL17RC, IL1RN, IL21R, IL2RA, IL2RG, IL36RN, IL6R, IL6ST, IL7R, INO80, IRAK4, IRF8, ISG15, ITCH, ITGA2B, ITGB2, ITGB3, ITK, JAGN1, JAK3, KDSR, KIF23, KLF1, KLKB1, KNG1, LAMTOR2, LAT, LCK, LIG4, LMAN1, LPIN2, LRBA, LYST, LYZ, MAGT1, MALT1, MAP3K14, MCFD2, MCM4, MECOM, MEFV, MOGS, MPL, MSN, MTHFD1, MTR, MTRR, MVK, MYD88, MYH9, MYO5B, MYSM1, NBEA, NBEAL2, NBN, NCF1, NCF2, NCF4, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP12, NLRP3, NOD2, NSMCE3, NT5C3A, ORAI1, OSMR, OTULIN, P2RY12, PALB2, PARN, PEPD, PFKM, PGM3, PIEZO1, PIK3CD, PIK3R1, PKLR, PLA2G4A, PLAT, PLAU, PLCG2, PLG, PNP, POLA1, POMP, PRF1, PRKCD, PRKDC, PROC, PROS1, PSMB8, PSTPIP1, PTPN11, PTPRC, PUS1, RAB27A, RAG1, RAG2, RASGRP1, RASGRP2, RBCK1, RBM8A, RFX5, RFXANK, RFXAP, RHAG, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RORC, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RPSA, RTEL1, RUNX1, SAMD9, SAMD9L, SAMHD1, SBDS, SEC23B, SERPINC1, SERPIND1, SERPINE1, SERPINF2, SERPING1, SGPL1, SH2D1A, SKIV2L, SLC11A2, SLC19A2, SLC25A38, SLC29A3, SLC2A1, SLC35C1, SLC37A4, SLC45A2, SLC46A1, SLC4A1, SLFN14, SLX4, SMAD4, SMARCAL1, SP110, SPINK5, SPPL2A, SPTA1, SPTB, SRC, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAP1, TAP2, TAZ, TBK1, TBXA2R, TBXAS1, TCF3, TCN2, TERT, TF, THBD, THPO, TICAM1, TINF2, TLR3, TMC6, TMC8, TMEM173, TMPRSS6, TNFAIP3, TNFRSF1A, TOP3A, TPI1, TPP2, TREX1, TRNT1, TTC37, TTC7A, TTR, TUBB1, TYK2, UBE2T, UNC13D, UNC93B1, UNG, UROS, USB1, VIPAS39, VKORC1, VPS13B, VPS33B, VPS45, VWF, WAS, WIPF1, XIAP, XK, YARS2, ZAP70, ZBTB24, ZNF341

40503801

40 a 60 dias úteis

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