Mitocondrial-NGS

Doenças mitocondriais - sequenciamento - 248 genes

Painel ampliado contendo 248 genes associados a doenças mitocondriais

Inclui análise de DNA mitocondrial

ABAT, ABCB7, ACAD9, ACO2, AFG3L2, AGK, AIFM1, ANO10, APOPT1, APTX, ATAD3A, ATP5D, ATPAF2, BCS1L, BOLA3, BTD, C12orf65, C19orf70, C1QBP, CA5A, CARS2, CHCHD10, CLPB, CLPP, COA6, COA7, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX7B, CYC1, DARS2, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, DNM2, EARS2, ECHS1, ELAC2, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, GARS, GDAP1, GFER, GFM1, GFM2, GLRX5, GTPBP3, HARS2, HCCS, HIBCH, HLCS, HSD17B10, HSPD1, HTRA2, IARS2, IBA57, ISCA1, ISCA2, ISCU, KARS, LARS2, LIAS, LIPT1, LIPT2, LONP1, LRPPRC, LYRM7, MARS2, MDH2, MECR, MFF, MFN2, MGME1, MICU1, MIPEP, MPC1, MPV17, MRPL3, MRPL44, MRPS2, MRPS22, MRPS34, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MTPAP, MT-RNR1, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TV, MT-TW, MT-TY, NADK2, NARS2, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA4, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB3, NDUFB8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, OPA3, PARS2, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PMPCA, PMPCB, PNPLA8, PNPT1, POLG, POLG2, PPA2, PUS1, QRSL1, RARS2, RMND1, RNASEH1, RRM2B, RTN4IP1, SACS, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC25A1, SLC25A12, SLC25A19, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TAZ, TIMM50, TIMM8A, TK2, TMEM126B, TMEM70, TOP3A, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TYMP, UQCC2, UQCRB, VARS2, WARS2, YARS2

40503801

40 a 60 dias úteis

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