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DLD

Exames relacionados Estratégia de Análise Gene relacionado
Mitocondriopatias de Etiologia Nuclear Painel por Sequenciamento de Próxima Geração AARS2, AASS, ABAT, ABCB6, ABCB7, ABCD1ABCD3, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACSL4, ADCK3, ADCK4, AFG3L2, AGK, AGXT, AIFM1, AK2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, AMACR, AMT, APOPT1, ATIC, ATP5A1, ATP5E, ATP7B, ATPAF2, ATXN2, AUH, BAX, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BOLA3, BRIP1, BTD, C10ORF2, C12ORF65, CA5A, CASP8, CAT, CHCHD10, CISD2, CLPB, CLPP, COA5, COA6, COASY, COMT, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, CPOX, CPS1, CPT1A, CPT1C, CPT2, CRBN, CYB5A, CYB5R3, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS2, DBT, DECR1, DGUOK, DHCR24, DHODH, DHTKD1, DIABLO, DLAT, DLD, DMGDH, DMPK, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, EHHADH, ELAC2, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FECH, FH, FKBP10, FOXRED1, FTH1, FXN, GARS, GATM, GCDH, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GLYCTK, GPI, GPT2, GPX1, GRHPR, GSR, GTPBP3, HADH, HA
Erros Inatos do Metabolismo Painel por Sequenciamento de Próxima Geração ABCC8, ABCD1, ACADM, ACADVL, ACAT1, AGL, ALDH7A1, ALDOB, ARG1, ARSA, ARSB, ASL, ASS1, ATP7A, ATP7B, BCKDHA, BCKDHB, BCKDK, BTD, CBS, CPS1, CPT1A, CPT2, CTNS, CYP11B1, CYP17A1, CYP21A2, DBT, DLD, ETFA, ETFB, ETFDH, ETHE1, FAH, FBP1, FOLR1, G6PC, G6PD, GAA, GALE, GALK1, GALT, GAMT, GATM, GBA, GBE1, GCDH, GCK, GLB1, GLUD1, GUSB, GYS2, HADH, HADHA, HADHB, HLCS, HMGCL, HMGCS2, HPD, IDS, IDUA, INSR, IVD, KCNJ11, LIPA, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MPI, MTHFR, MTR, MTRR, MUT, NAGLU, NAGS, OTC, OXCT1, PAH, PCBD1, PCCA, PCCB, PGM1, PHGDH, PHKA2, PSAT1, PSPH, PTS, PYGL, QDPR, SGSH, SI, SLC16A1, SLC19A2, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC2A1, SLC2A2, SLC37A4, SLC46A1, SLC52A2, SLC52A3, SLC7A9, TAT, TCN2, TPP1, GLA, NPC1, NPC2, SMPD1
Xarope de Bordo, Doença Painel por Sequenciamento de Próxima Geração BCKDHA, BCKDHB, DBT, DLD
Painel para Detecção de Portadores Assintomáticos de Doenças Genéticas Frequentes em Judeus Painel por Sequenciamento de Próxima Geração ABCC8, ABCD1, ACADM, ADAMTS2, AGL, AIRE, ARSA, ASNS, ASPA, ATM, ATP6V1B1, ATP7B, BBS2, BCKDHB, BLM, CERKL, CFTR, CLRN1, COL4A3, CPT2, CTNS, CYBA, CYP11B2, CYP21A2, CYP27A1, DHCR7, DHDDS, DLD, DMD, DNAH5, DNAI1, DNAI2, DYSF, EYS, F11, FAH, FAM161A, FANCA, FANCC, FKTN, FMR1, G6PC, GAA, GALT, GBA, GBE1, GJB2, GNE, HBA1, HBA2, HBB, HEXA, HOGA1, HPS3, IKBKAP, LDLR, LIPA, LOXHD1, MCOLN1, MED17, MEFV, MLC1, MPL, MTHFR, MTTP, NDUFAF5, NDUFS6, NEB, NR2E3, NTRK1, OAT, OPA3, PAH, PCDH15, PEX2, PEX6, PFKM, PHGDH, PKHD1, PMM2, PUS1, PYGM, RAG2, RAPSN, RARS2, RPE65, RTEL1, SEPSECS, SLC35A3, SMN1, SMPD1, SUMF1, TCIRG1, TECPR2, TMEM216, TRMU, TYMP, USH2A, VPS13A, VRK1, VSX2
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/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
Doenças Autossômicas Recessivas Painel para Análise de Mutação ABCA4, ABCB7, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACE, ACOX1, ACTN4, ADA, ADAMTS2, ADAMTSL2, ADCK3, AGA, AGL, AGPS, AGT, AGTR1, AGXT, AHI1, AIPL1, ALAS2, ALDH4A1, ALDH5A1, ALDOA, ALDOB, ALG1, ALG6, ALMS1, ALPL, AMACR, AMT, ANO5, APTX, AR, ARG1, ARL13B, ARL6, ARSA, ARSB, ARSE, ARX, ASL, ASPA, ASPM, ASS1, ATIC, ATP7A, ATP7B, ATR, AUH, B4GALT1, B9D2, BCKDHA, BCKDHB, BCS1L, BEST1, BRCA2, BRIP1, BSCL2, BSND, BTD, BTK, C10ORF2, C3, CA2, CAPN3, CBS, CC2D2A, CD2AP, CD40LG, CDH23, CDH3, CDHR1, CDK5RAP2, CENPJ, CEP152, CEP290, CERKL, CFH, CFTR, CHST6, CLCN1, CLCN7, CLDN14, CLDN19, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGB1, CNGB3, COL11A1, COL17A1, COL18A1, COL1A2, COL2A1, COL4A3, COL4A4, COL7A1, COL9A1, COL9A2, COQ2, CPS1, CPT1A, CPT2, CRB1, CRLF1, CRTAP, CRX, CSTB, CTNS, CTSD, CTSK, CYP21A2, CYP4V2, CYP7B1, D2HGDH, DBT, DCLRE1C, DDB2, DDC, DFNB31, DFNB59, DGUOK, DHCR7, DHDDS, DKC1, DLD, DLL3, DMD, DMP1, DNAJC19, DPAGT1, DPM1, DPYD, DSP, DYSF, EDA, EDN3, EDNRB, EGR2, EIF2AK3, EMD, ENO3, ENPP1, ERCC2, ERCC3
Subscrever DLD