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DOK7

Exames relacionados Estratégia de Análise Gene relacionado
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
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
Miastenia Congenita, Síndrome, Relacionada a Distrofia de Cinturas Sequenciamento Completo do Gene DOK7
Malformações Cerebrais / Transtorno de Migração Neuronal, Painel Expandido Painel por Sequenciamento de Próxima Geração ACTB, ACTG1, ADAR, ADGRG1, AFF2, AGTR2, AKT1, AKT3, ALDH7A1, AP1S2, ARFGEF2, ARHGEF15, ARHGEF6, ARX, ASAH1, ASPA, ASPM, ATP13A2, ATP6AP2, BRWD3, C19ORF12, CACNA1H, CACNB4, CASK, CASR, CCND2, CDK5, CDK5RAP2, CDKL5, CDON, CECR1, CENPJ, CEP152, CHD2, CHD8, CHRNA2, CHRNA4, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLP1, CNTNAP2, COL4A1, COL4A2, CP, CSTB, CUL4B, CYP27A1, DARS, DCAF17, DCX, DEPDC5, DIS3L2, DISP1, DKC1, DLG3, DLL1, DOK7, DYRK1A, EEF1A2, EFHC1, EIF2B3, EIF2B5, EIF2S3, EMX2, EOMES, EPM2A, EXOSC3, EZH2, FA2H, FGD1, FGF8, FGFR3, FLNA, FOXG1, FOXH1, FTL, FTSJ1, GABRA1, GABRD, GABRG2, GALC, GAMT, GAS1, GDI1, GK, GLDC, GLI2, GLI3, GNAQ, GOSR2, GPC3, GPSM2, GRIA3, GRIN2A, HCFC1, HCN1, HDAC8, HEPACAM, HERC2, HGSNAT, HNRNPDL, HPRT1, HSD17B10, HTRA1, HUWE1, IDS, IFIH1, IGBP1, IKBKAP, IL1RAPL1, IQSEC2, ITM2B, JAM3, KATNB1, KCNH5, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIAA2022, KIF1BP, KIF2A, KIF5C, KIF7, KLF8, KPTN, L1CAM, LAMB1, LGI1, MAGT1, MAOA, MBD5, MBTPS2, MCPH1, MECP2, MED12, MEF2C, MID1, MLC1, MYBPC1, NAA10, NDE1
Miastenia Congenita Síndrome Painel por Sequenciamento de Próxima Geração CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, MUSK, RAPSN, DOK7, SCN4A, AGRN, GFPT1, DPAGT1, STIM1
Miastenia Congenita, Síndrome, Relacionada A Distrofia de Cinturas Painel por Sequenciamento de Próxima Geração ACTA1, ADCY6, AGRN, ALG14, ALG2, ALG3, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CNTNAP1, COL13A1, COLQ, DNM2, DOK7, DPAGT1, ECEL1, ERBB3, FBN2, FBN3, FKBP10, GFPT1, GLDN, GLE1, GMPPB, GPR126, LAMB2, LRP4, MUSK, MYBPC1, MYH3, MYH8, MYO9A, NALCN, NEK9, PIEZO2, PIP5K1C, PLEC, PLOD2, PREPL, RAPSN, SCN4A, SEMA3A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYNE1, SYT2, TNNI2, TNNT3, TPM2, VIPAS39, VPS33B, ZC4H2
Hipotonia Muscular, Início Adulto Painel por Sequenciamento de Próxima Geração ABHD5, ACADM, ACADVL, ACTA1, ADSSL1, AGL, ANO5, BAG3, BICD2, BVES, CAPN3, CASQ1, CAV3, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DOK7, DYNC1H1, DYSF, EMD, ETFA, ETFB, ETFDH, FHL1, FKRP, FKTN, FLNC, GAA, GBE1, GFPT1, GMPPB, GNE, GYG1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HNRNPU, ISCU, ISPD, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LPIN1, MATR3, MTM1, MYH2, MYH7, MYO9A, MYOT, NEB, ORAI1, PLEC, PNPLA2, POLG, POMGNT1, POMT1, POMT2, PUS1, PYGM, RAPSN, RBCK1, RRM2B, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SLC22A5, SLC25A1, SLC5A7, SQSTM1, STIM1, SYT2, TCAP, TIA1, TK2, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TRPV4, TTN, VCP, VMA21
Acinesia Fetal / Artrogripose Multipla Congênita Painel por Sequenciamento de Próxima Geração ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTB, ACTG1, ADCY6, ADGRG6, ADSL, AGL, AGRN, AIMP1, ALG14, ALG2, ANO5, ASCC1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CAPN3, CAV3, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CNTN1, CNTNAP1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, CTDP1, CUL4B, DES, DMD, DNAJB6, DNM2, DOK7, DPAGT1, DPM2, DYNC1H1, DYNC2H1, DYSF, ECEL1, EGR2, EMD, ERBB3, ERCC6, ETFA, ETFB, ETFDH, EXOSC3, FAM20C, FBN2, FGFR2, FHL1, FKBP10, FKBP14, FKRP, FKTN, FLNB, FLNC, FOXP3, GAA, GARS, GBA, GBE1, GDAP1, GFPT1, GLE1, GMPPB, GNE, HADH
Acinesia Fetal Painel por Sequenciamento de Próxima Geração RAPSN, DOK7, MUSK
Encefalopatias (Mitocondrial/Epiléptico) Painel por Sequenciamento de Próxima Geração AARS2, ABCB7, ABCD1, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACOX1, ACTG2, ADAR, ADCK3, ADCK4, AFG3L2, AGK, AGL, AGRN, AIFM1, AIMP1, ALAS2, ALDH3A2, ALDH7A1, ALG14, ALG2, AMACR, ANO10, APOPT1, APTX, ARG1, ARHGEF15, ARHGEF9, ARSA, ARX, ASAH1, ASPA, ATP13A2, ATP1A2, ATP1A3, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCS1L, BOLA3, C10ORF2, C12ORF65, C19ORF12, CACNA1A, CACNA1H, CACNB4, CAD, CARS2, CASR, CCDC115, CDKL5, CHAT, CHCHD10, CHD2, CHD8, CHKB, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CLCN4, CLN3, CLN5, CLN6, CLP1, CLPB, CLPP, COL4A1, COL4A2, COLQ, COQ2, COQ4, COQ6, COQ7, COQ9, COX10, COX14, COX15, COX4I2, COX6B1, COX8A, CP, CPT1A, CPT2, CSF1R, CSTB, CYP27A1, DARS2, DCAF17, DEPDC5, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNAJC3, DNM2, DOCK7, DOK7, DPAGT1, DPM2, DYRK1A, EARS2, ECHS1, EEF1A2, EFHC1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPG5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXOSC8, FA2H, FAM126A, FARS2, FASTKD2, FBXL4, FDX2, FLAD1, FOLR1, FOXG1, FOXRED1, FTL, FUCA1, GABRA1, GABRD, GABRG2, GALC, GAMT
Neuropatia, Painel Expandido Painel por Sequenciamento de Próxima Geração AAAS, AARS, ABCA1, ABHD12, ACTA1, ADAR, AGRN, AIFM1, ALG14, ALG2, ALS2, AMACR, ANG, ANO5, ARHGEF10, ASAH1, ASCC1, ATL1, ATL3, ATM, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, C12ORF65, CAPN3, CASQ1, CCDC78, CCT5, CFL2, CHAT, CHCHD10, CHKB, CHMP2B, CHRNA1, CHRNB1, CHRND, CHRNE, CLP1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COX10, COX6A1, CTDP1, CYP27A1, DAG1, DCAF8, DCTN1, DES, DGAT2, DHTKD1, DMD, DNAJB2, DNAJB5, DNM2, DNMT1, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DST, DYNC1H1, DYSF, EGR2, EMD, EPG5, EXOSC3, EXOSC8, FAM126A, FAM134B, FBLN5, FBXO38, FGD4, FHL1, FIG4, FKBP14, FKRP, FKTN, FUS, FXN, GAA, GALC, GAN, GARS, GBA, GBE1, GDAP1, GFPT1, GJB1, GLA, GMPPB, GNB4, GSN, GYG1, HADHA, HADHB, HARS, HEXA, HINT1, HK1, HMBS, HNRNPA1, HNRNPA2B1, HNRNPDL, HSPB1, HSPB3, HSPB8, IFRD1, IGHMBP2, IKBKAP, INF2, ISPD, ITGA7, KARS, KBTBD13, KIF1A, KIF5A, KLHL13, KLHL40, KY, LAMA2, LAMB2, LAMP2, LARGE1, LAS1L, LIMS2, LITAF, LMNA, LMOD3, LRP4, LRSAM1, MARS, MATR3, MED25, MEGF10, MFN2, MICAL1, MICU1, MORC2
Seqüência de Deformação da Acinesia Fetal/Síndrome do Pterígio Múltiplo Painel por Sequenciamento de Próxima Geração CHRNA1, CHRND, CHRNE, CHRNG, CNTN1, COLQ, DOK7, GLE1, KLHL40, MUSK, RAPSN
Subscrever DOK7