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TMEM70

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
Colestase Intra-Hepática Progressiva Familiar (PFIC) Painel por Sequenciamento de Próxima Geração ABCB11, ABCB4, ABCC2, ACTG2, ADA, ADK, AICDA, AKR1D1, ALDOB, ATP7B, ATP8B1, ATRX, BAAT, BTK, CC2D2A, CD3G, CD40LG, CDX1, CFTR, CLDN1, CLMP, COG7, COL7A1, CTLA4, CYBA, CYBB, CYP27A1, DCDC2, DCLRE1C, DES, DGUOK, DMD, DOCK8, EDN3, EDNRB, EPCAM, FAH, FAM58A, FANCB, FERMT1, FLNA, FOXF1, FOXP3, G6PC3, GALT, GBA, GBE1, GLI3, GUCY2C, HADHA, HNF1B, HPS1, HPS4, HPS6, HSD3B7, ICOS, IDS, IKBKG, IL10, IL10RA, IL10RB, IL2RA, IL2RG, INVS, ITGB2, JAG1, KIF1BP (KIAA1279), L1CAM, LIG4, LIPA, LRBA, MED12, MEFV, MID1, MNX1, MPI, MPV17, MVK, MYO5B, NCF1, NCF2, NOTCH2, NPC1, NPC2, NR1H4, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX6, PHOX2B, PIK3CD, POLG, PTEN, RAG1, RAG2, RECQL4, RET, RRM2B, RTEL1, SALL1, SAMD9, SCN11A, SH2D1A, SKIV2L, SLC25A13, SLC37A4, SMPD1, SOX10, STAT1, STAT3, STXBP2, TALDO1, TGFBR1, TGFBR2, TJP2, TMEM70, TRMU, TTC37, TTC7A, TYMP, UGT1A1, VIPAS39, VPS33B, WAS, XIAP, ZEB2. ZIC3
Cardiopatias Painel por Sequenciamento de Próxima Geração + Análise de Deleção/Duplicação ABCC9, ACTC1, ACTN2, AGL, BAG3, CACNA1C, CAV3, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, FOXC2, FOXL1, GAA, GJA1, GLA, HAND1, HCN4, IRX4, JUP, LAMP2, LMNA, MYBPC3, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, RAF1, RBM20, RYR2, SCN5A, SGCD, SLC22A5, TAZ, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, ANKRD1, CALR3, CHRM2, CTF1, CTNNA3, DTNA, FHL2, GATA4, GATA6, GATAD1, ILK, JPH2, LAMA4, LDB3, LRRC10, MED12, MYH6, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NKX25, NPPA, PDLIM3, PLEKHM2, PRDM16, TGFB3, TMPO, TXNRD2, A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RASA1, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1, ACADVL, ALMS1, CPT2, DNAJC19, ELAC2, MTO1, SDHA, TMEM70, ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TBX5, TGFB2, TGFBR1, TGFBR2, MAT2A, SMAD6
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
Leucodistrofia e Leucoencefalopatia Painel por Sequenciamento de Próxima Geração AARS, AARS2, ABAT, ABCD1, ACOX1, ADAR, AIMP1, ALDH3A2, ARSA, ASPA, AUH, B3GALNT2, BCAP31, BOLA3, C11ORF73, CLCN2, CLN6, COL4A1, CSF1R, CTC1, CYP27A1, DAG1, DARS, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A, FBXL4, FOLR1, GALC, GBE1, GCDH, GFAP, GJC2, GLRX5, HEPACAM, HIKESHI, HSD17B4, HSPD1, HTRA1, IFIH1, ISCA2, L2HGDH, LAMB1, LIAS, LMNB1, MARS2, MLC1, MRPS22, NADK2, NOTCH3, PC, PEX1, PLEKHG2, PLP1, POLR1C, POLR3A, POLR3B, PSAP, PYCR2, RARS, RNASEH2A, RNASEH2C, RNASET2, RPIA, SAMHD1, SCP2, SDHA, SDHAF1, SDHD, SLC16A2, SLC17A5, SLC25A12, SOX10, SUMF1, TBCK, TMEM70, TREM2, TREX1, TUBB4A, TUFM, TYMP, TYROBP, UGT1A1, VPS11
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
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