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Insuficiência da Medula Óssea, Síndromes |
Painel por Sequenciamento de Próxima Geração |
ABCB7, AK2, ALAS2, ANKRD26, ATR, BRCA2, BRIP1, CTC1, DKC1, DNAJC21, EFTUD1, ERCC4, ERCC6L2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GATA2, GRHL2, IKZF1, LIG4, LYST, MAD2L2, MPL, NBN, NHP2, NOP10, PALB2, PARN, RAD51, RAD51C, RTEL1, SAMD9L, SBDS, SLC46A1, SLX4, SRP72, TCN2, TERC, TERT, THPO, TINF2, UBE2T, USB1, WAS, WIPF1, WRAP53, XRCC2, ELANE, GATA1, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, CASP10, CBL, CDAN1, CSF3R, CXCR4, G6PC3, GFI1, HAX1, HOXA11, JAGN1, KLF1, MASTL, MYH9, PRF1, PUS1, RAC2, RPL15, RPL27, RPS17, RPS27, RPS28, RPS29, SEC23B, SLC19A2, SLC25A38, STX11, STXBP2 VPS45 |
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Trombocitopenia |
Painel por Sequenciamento de Próxima Geração |
CBS, ACTN1, ADAMTS13, ANKRD26, ANO6, CD36, CYCS, ETV6, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, FLI1, FYB, GATA1, GFI1B, GGCX, GP1BA, GP1BB, GP9, HRG, ITGA2B, ITGB3, LMAN1, MCFD2, TTC7A, MPL, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, PROC, PROS1, RASGRP2, RUNX1, SERPINC1, SERPIND1, SERPINF2, SLC19A2, SLFN14, THBD, TPM4, TUBB1, VWF, WAS, HABP2, MTHFR, PROCR, SERPINE1 |
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Mutações Conhecidas para Leucemia |
Painel por Sequenciamento de Próxima Geração |
ABL1, ASXL1, BRAF, CBL, CDKN2A, CEBPA, CREBBP, CRLF2, CSF1R, CTCF, DNM2, DNMT3A, EED, EP300, ETV6, EZH2, FBXW7, FLT3, GATA1, HRAS, IDH1, IDH2, IKZF1, IKZF3, IL7R, JAK2, JAK3, KIT, KRAS, MPL, NOTCH1, NPM1, NRAS, PAX5, PDGFRA, PHF6, PTEN, PTPN11, RELN, RUNX1, SF3B1, SRSF2, SUZ12, TAL1, TET2, TP3, U2AF1 |
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Desordem Familial de Plaquetas com Propensão a Leucemia Aguda |
Sequenciamento Completo do Gene |
RUNX1 |
