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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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Neutropenia Hereditária |
Painel por Sequenciamento de Próxima Geração |
AP3B1, CSF3R, CXCR4, ELANE, G6PC3, GATA1, GATA2, GFI1, HAX1, JAGN1, LAMTOR2, LYST, RAB27A, RAC2, SBDS, SLC37A4, TAZ, USB1, VPS13B, VPS45, WAS, WIPF1 |
