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HPS4

Exames relacionados Estratégia de Análise Gene relacionado
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
Hermanski-Pudlak, Síndrome Painel por Sequenciamento de Próxima Geração AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6
Genética de Hemopatias Painel por Sequenciamento de Próxima Geração HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, BLOC1S3, DTNBP1, GP1BA, GP1BB, GP9, VWF, F11, F9, SERPINF2, ANO6, F5, F2, LMAN1, ITGB3, FGA, F8, F7, FGG, FGB, F10, P2RY12, SERPINE1, TBXA2R, ITGA2B, GP6, MCFD2, F13B, F13A1
Albinismo Oculocutaneo Painel por Sequenciamento de Próxima Geração AP3B1, BLOC1S3, BLOC1S6, CACNA1F, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, LRMDA, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, OCA5, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, TYR, TYRP1
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