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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 |
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Retinopatias, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
ABCA4, ABCC6, ABCD1, ABHD12, ACO2, ADAM9, ADGRV1, AGBL5, AHI1, AHR, AIPL1, ALMS1, AMACR, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARSG, ATF6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C12ORF65, C1QTNF5, C2ORF71, C5orf42, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CASK, CC2D2A, CDH23, CDH3, CDHR1, CEP290, CEP41, CERKL, CFH, CHM, CIB2, CISD2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGB1, CNGB3, CNNM4, CRB1, CRX, CTSD, CYP4V2, DFNB31, DHDDS, DHX38, DNAJC5, EFEMP1, ELOVL4, EYS, FAM161A, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GJB2, GJB6, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HGSNAT, HK1, HMCN1, HMX1, IDH3B, IFT140, IFT172, IFT43, IMPDH1, IMPG2, IQCB1, ITM2B, KCNJ13, KCNV2, KCTD7, KIF7, KIZ, KLHL7, LAMA1, LCA5, LRAT, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MVK, MYO7A, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OTX2, PAX6, PCARE, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G |
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Surdez Não Sindrômica |
Painel por Sequenciamento de Próxima Geração |
A2ML1, ABHD12, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ARSG, ATP1A3, ATP2B2, ATP6V1B1, BCS1L, BDP1, BSND, CABP2, CACNA1D, CATSPER2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CEP250, CEP78, CHD7, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL1A1, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, CRYL1, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, DNAJC3, DSPP, DTNA, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ERAL1, ESPN, ESRRB, EYA1, EYA4, FAM136A, FDXR, FGF3, FGFR3, FOXI1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRHL2, GRXCR1, GRXCR2, GSDME, HARS, HARS2, HGF, HOMER2, HOXA2, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LOXHD1, LRTOMT, MAFB, MARVELD2, MCM2, MET, MIR96, MITF, MPZL2, MRPS2, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCARE, PCDH15, PDE1C, PDZD7, PEX1, PEX6, PJVK, PLS3, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRKCB, PRPS1, PTPRQ, RAI1, RDX, REST, RIPOR2, ROR1, RP1L1, S1PR |
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Atrofia Óptica |
Sequenciamento Completo do Gene |
OPA1 |
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Oftalmoplegia Externa Progressiva Crônica, Autossômica Dominante |
Painel por Sequenciamento de Próxima Geração |
DNA2, OPA1, POLG, RRM2B, SLC25A4, TK2 |
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Oftalmoplegia Externa Progressiva Crônica e Fenocópias |
Painel por Sequenciamento de Próxima Geração |
AGRN, ALG14, ALG2, C10ORF2, C12ORF65, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DGUOK, DNA2, DNM2, DOK7, DPAGT1, GFPT1, KIF21A, LRP4, MGME1, MTM1, MUSK, OPA1, POLG, POLG2, PREPL, RAPSN, RNASEH1, RRM2B, RYR1, SLC25A4, SPG7, TK2, TUBB3, TYMP |
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Miopatia Mitocondrial |
Painel por Sequenciamento de Próxima Geração |
ACADVL, ALAS2, C10ORF2, C12ORF65, CHCHD10, CHKB, CHRNE, COLQ, CPT2, DGUOK, DNA2, DNM2, DOK7, ETFA, ETFB, ETFDH, FDX2, ISCU, KIF21A, LAMP2, MGME1, MTM1, OPA1, POLG, POLG2, PUS1, RNASEH1, RRM2B, RYR1, SLC22A5, SLC25A4, SLC25A42, SPG7, TK2, TUBB3, TYMP |
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Distrofia de Retina / Fotoreceptor |
Painel por Sequenciamento de Próxima Geração |
ABCA4, ADAM9, AIPL1, BBS1, BEST1, C1QTNF5, C2ORF71, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CDH3, CDHR1, CEP290, CERKL, CHM, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, CRB1, CRX, CYP4V2, DHDDS, EFEMP1, ELOVL4, EYS, FAM161A, FLVCR1, FSCN2, FZD4, GNAT1, GNAT2, GPR179, GRM6, GUCA1A, GUCA1B, GUCY2D, IDH3B, IMPDH1, IMPG2, IQCB1, KCNJ13, KCNV2, KLHL7, LCA5, LRAT, LRIT3, LRP5, MAK, MERTK, MFN2, NDP, NR2E3, NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, PAX6, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PITPNM3, PLA2G5, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, SLC24A1, SNRNP200, SPATA7, TIMM8A, TIMP3, TMEM126A, TOPORS, TRPM1, TSPAN12, TTC8, TULP1, UNC119, USH2A, VCAN, ZNF513 |
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Atrofia Óptica, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
ACO2, AUH, C12ORF65, CISD2, MFN2, MTPAP, NDUFS1, NR2F1, OPA1, OPA3, POLG, SLC24A1, SPG7, TIMM8A, TMEM126A, WFS1 |
