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MPV17

Exames relacionados Estratégia de Análise Gene relacionado
Mitocondriopatias Painel por Sequenciamento de Próxima Geração AARS2, ACAD9, AIFM1, APOPT1, ATP5A1, ATP5E, ATPAF2, BCS1L, BOLA3, C12ORF65, C1QBP, CARS2, CHCHD10, COX10, COX14, COX15, COX20, COX6B1, CYC1, DARS2, DGUOK, DNA2, EARS2, ECHS1, ELAC2, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FOXRED1, GFER, GFM1, GTPBP3, HADHA, HADHB, IBA57, ISCA1, ISCA2, ISCU, LIAS, LIPT2, LRPPRC, LYRM4, LYRM7, MARS2, MGME1, MICOS13, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS2, MRPS22, MRPS34, MRSP7, MSTO1, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, PCK2, PET100, PNPLA8, PNPT1, POLG, POLG2, PUS1, RMND1, RNASEH1, RRM2B, SCO1, SDHA, SDHAF1, SDHD, SFXN4, SLC25A26, SLC25A3, SLC25A4, SUCLA2, SUCLG1, SUOX, SURF1, TACO1, TANGO2, TARS2, TIMMDC1, TK2, TMEM126B, TMEM70, TRIT1, TRMT10C, TRMT5, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WARS2, YARSS, MTND1, MTND2, MTCO1, MTCO2, MTATP8
Amiotrofia Distal Painel por Sequenciamento de Próxima Geração + Análise de Deleção/Duplicação AR, AARS, ABHD12, AIFM1, ARHGEF10, ASAH1, ASCC1, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CHCHD10, CLP1, CNTNAP1, COA7, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, EXOSC3, EXOSC8, FBXO38, FGD4, FIG4, GAA, GAN, GARS, GDAP1, GJB1, GJB1 (CX32), GNB4, HARS, HEXA, HINT1, HMBS, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MEGF10, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NEFL, PDK3, PLEKHG5, PMP2, PMP22, PRPS1, PRX, PTRH2, RAB7, RAB7A, REEP1, SBF1, SBF2, SCO2, SETX, SGPL1, SH3TC2, SIGMAR1, SLC52A2, SLC52A3, SLC5A7, SMN, SMN1, SMN2, SPG11, SPTLC1, SYT2, TFG, TRIM2, TRIP4, TRPV4, UBA1, VAPB, VCP, WARS, YARS
Mitocondriopatia Hepática Painel por Sequenciamento de Próxima Geração ABHD5, AGL, ATP7B, BCS1L, C10ORF2, CCDC115, CPT1A, DGUOK, GBE1, GFM1, LARS, MPV17, NBAS, PNPLA2, POLG, SCO1, SLC25A26, SUCLG1, TALDO1, TRMU, TSFM
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
Encefalopatias (Mitocondrial/Síndrome de Leigh) Painel por Sequenciamento de Próxima Geração AARS2, ACAD9, ADCK3, C10ORF2, COQ2, COQ6, COQ9, COX10, DGUOK, EARS2, ETHE1, FBXL4, MPV17, MTFMT, MTO1, NARS2, NDUFS2, NDUFS4, PDHA1, PDSS1, PDSS2, POLG, RMND1, RNASEH1, RRM2B, SCO1, SCO2, SLC19A3, SUCLA2, SUCLG1, SURF1, TK2, TMEM70, TRIT1, TRMU
Charcot-Marie-Tooth Painel por Sequenciamento de Próxima Geração AARS, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BSCL2, CNTNAP1, COA7, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MED25, MARS, MCM3AP, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NEFL, PDK3, PLEKHG5, PMP2, PMP22, PRPS1, PRX, PTRH2, RAB7, RAB7A, SBF1, SBF2, SCO2, SETX, SGPL1, SH3TC2, SIGMAR1, SPG11, SPTLC1, TRIM2, TRPV4, VCP, WARS, YARS
Subscrever MPV17