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Colestase Intra-Hepática Progressiva Familiar (PFIC) |
Painel por Sequenciamento de Próxima Geração |
ABCB11, ABCB4, ABCC2, ACTG2, ADA, ADK, AICDA, AKR1D1, ALDOB, ATP7B, ATP8B1, ATRX, BAAT, BTK, CC2D2A, CD3G, CD40LG, CDX1, CFTR, CLDN1, CLMP, COG7, COL7A1, CTLA4, CYBA, CYBB, CYP27A1, DCDC2, DCLRE1C, DES, DGUOK, DMD, DOCK8, EDN3, EDNRB, EPCAM, FAH, FAM58A, FANCB, FERMT1, FLNA, FOXF1, FOXP3, G6PC3, GALT, GBA, GBE1, GLI3, GUCY2C, HADHA, HNF1B, HPS1, HPS4, HPS6, HSD3B7, ICOS, IDS, IKBKG, IL10, IL10RA, IL10RB, IL2RA, IL2RG, INVS, ITGB2, JAG1, KIF1BP (KIAA1279), L1CAM, LIG4, LIPA, LRBA, MED12, MEFV, MID1, MNX1, MPI, MPV17, MVK, MYO5B, NCF1, NCF2, NOTCH2, NPC1, NPC2, NR1H4, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX6, PHOX2B, PIK3CD, POLG, PTEN, RAG1, RAG2, RECQL4, RET, RRM2B, RTEL1, SALL1, SAMD9, SCN11A, SH2D1A, SKIV2L, SLC25A13, SLC37A4, SMPD1, SOX10, STAT1, STAT3, STXBP2, TALDO1, TGFBR1, TGFBR2, TJP2, TMEM70, TRMU, TTC37, TTC7A, TYMP, UGT1A1, VIPAS39, VPS33B, WAS, XIAP, ZEB2. ZIC3 |
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Linfohistiocitose Hemofagocitica Familiar |
Painel por Sequenciamento de Próxima Geração |
ADA, AP3B1, BLOC1S6, BTK, CD27, IL2RA, IL2RG, ITK, LYST, MAGT1, MVK, PNP, PRF1, RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, UNC13D, WAS, XIAP |
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Imunodeficiência Variavel Comum |
Painel por Sequenciamento de Próxima Geração |
AICDA, AKT1, BLNK, BTK, CD19, CD27, CD40, CD40LG, CD79A, CD79B, CD81, CD86, CR2, CTLA4, CXCL12, CXCR4, DCLRE1C, GATA2, ICOS, IGLL1, IKBKB, IKBKG, IL17A, IL17F, IL21, IL21R, IRF4, LRRC8A, MLH1, MS4A1, NFKB1, NFKBIA, PDCD1, PIK3CD, PIK3R1, RAG1, RAG2, SH2D1A, STAT1, STAT3, TCF7, TFRC, TGFB1, TGFB2, TGFB3, TNFRSF13B, TNFRSF13C, TNFRSF4, TNFSF10, TNFSF13, TNFSF13B |
