- Código
- Hemato-NGS
- Doença(s)
- Doenças hematológicas e imunológicas - sequenciamento - 424 genes
- Descrição
- 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.
- Gene / Região
- 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, RNU4ATAC, 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, 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, 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
- TUSS
- 40503801
- Prazo de entrega
- 40 a 60 dias úteis
- Preço
- R$ 2.490,00
Entre em contato para solicitar o exame:
- especialista_cegh@ib.usp.br
(em horário comercial) - WhatsApp: (11) 98949-5700 (só para mensagem)
- Preencha o formulário abaixo e entraremos em contato (verifique sua caixa de spam):
Informações sobre o exame:
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.