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Anemias |
Painel por Sequenciamento de Próxima Geração |
ABCB7, AK1, ALAS2, ALDOA, ANK1, BPGM, C15ORF41, CDAN1, COX4I2, EGLN1, EPAS1, EPB41, EPB42, EPO, EPOR, G6PD, GATA1, GCLC, GLRX5, GPI, GSR, GSS, HBB, HK1, HSPA9, JAK2, KCNN4, KIF23, KLF1, LPIN2, NDUFB11, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, PUS1, RHAG, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, SEC23B, SH2B3, SLC11A2, SLC25A38, SLC2A1, SLC30A10, SLC4A1, SPTA1, SPTB, TMPRSS6, TPI1, TRNT1, TSR2, UROS, VHL, YARS2 |
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Anemia Mitocondrial |
Painel por Sequenciamento de Próxima Geração |
ABCB7, ALAS2, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2 |
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Leigh, Síndrome |
Painel por Sequenciamento de Próxima Geração |
AARS2, ACAD9, ADCK3, APTX, ATP5E, ATPAF2, BCS1L, C10ORF2, COQ2, COQ9, COX10, COX15, COX4I1, COX4I2, COX6B1, COX7A1, DARS2, DGUOK, DLAT, DLD, ETFDH, ETHE1, FASTKD2, FH, FOXRED1, GFER, GFM1, LARS2, LMBRD1, LRPPRC, MPV17, MRPS16, MTFMT, NDUFA1, NDUFA10, NDUFA11, NDUFA13, NDUFA2, NDUFA7, NDUFA8, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFB6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV3, NUBPL, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, RARS2, RRM2B, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SUCLA2, SUCLG1, SUCLG2, SURF1, TACO1, TK2, TMEM70, TOMM20, TRMU, TSFM, TTC19, TUFM, TUSC3, TYMP, UQCRB, UQCRQ, YARS2 |
