Metabolico-NGS

Doenças metabólicas - sequenciamento - 658 genes

Painel completo – Sequenciamento de 658 genes previamente associados a erros inatos do metabolismo, mucopolissacaridose, doença de Gaucher, doença de Fabry, doenças nucleares mitocondriais, doenças peroxissomais, deficiência de biotinidase, deficiência de acil-CoA desidrogenase, acidúrias e acidemias orgânicas, deficiência de folato cerebral, defeitos congênitos da glicosilação, hipoglicemia cetótica, doença de MCArdle, doença de Menkes, doença de Wilson, hiperamonemia e doenças metabólicas de etiologias diversas

Pode incluir análise de DNA mitocondrial (a pedido médico)

AARS2, AASS, ABAT, ABCA1, ABCB11, ABCB4, ABCB7, ABCD1, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACBD5, ACO2, ACOX1, ACSF3, ACY1, ADA, ADAR, ADSL, AFG3L2, AGA, AGK, AGL, AGPS, AGXT, AHCY, AIFM1, AKR1D1, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG14, ALG3, ALG6, ALG8, ALG9, ALPL, AMACR, AMN, AMT, ANO10, APOA1, APOA5, APOB, APOC2, APOE, APOPT1, APRT, APTX, ARG1, ARSA, ARSB, ARSE, ARSK, ASAH1, ASL, ASPA, ASS1, ATAD3A, ATIC, ATP13A2, ATP5D, ATP6AP1, ATP6V0A2, ATP7A, ATP7B, ATP8B1, ATPAF2, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, BAAT, BCKDHA, BCKDHB, BCKDK, BCS1L, BOLA3, BTD, C12orf65, C19orf12, C19orf70, C1QBP, CA5A, CARS2, CAT, CBS, CCDC115, CHCHD10, CHKB, CHST14, CHST3, CHST6, CHSY1, CISD2, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CNNM2, COA6, COA7, COG1, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX7B, CP, CPOX, CPS1, CPT1A, CPT2, CTH, CTNS, CTSA, CTSC, CTSD, CTSK, CUBN, CYC1, CYP27A1, CYP7B1, D2HGDH, DARS, DARS2, DBH, DBT, DCXR, DDC, DGUOK, DHCR24, DHCR7, DHFR, DHODH, DHTKD1, DLAT, DLD, DNA2, DNAJC12, DNAJC19, DNAJC5, DNM1L, DNM2, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DYM, EARS2, EBP, ECHS1, ELAC2, ENO3, EPG5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXT1, EXT2, FA2H, FAH, FAR1, FARS2, FASTKD2, FBP1, FBXL4, FDX2, FDXR, FECH, FGFR2, FH, FKRP, FKTN, FLAD1, FMO3, FOLR1, FOXRED1, FTCD, FUCA1, FUT8, FXN, G6PC, G6PC3, GAA, GABRG2, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GARS, GATM, GBA, GBE1, GCDH, GCH1, GCLC, GDAP1, GFER, GFM1, GFM2, GFPT1, GIF, GK, GLA, GLB1, GLDC, GLRA1, GLRX5, GLUD1, GLUL, GLYCTK, GM2A, GMPPB, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GPD1, GPHN, GRHPR, GSS, GTPBP3, GUSB, GYG1, GYS1, GYS2, HAAO, HADH, HADHA, HADHB, HAMP, HARS2, HCCS, HCFC1, HEXA, HEXB, HFE, HFE2, HGD, HGSNAT, HIBCH, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HPD, HPRT1, HPS1, HS2ST1, HSD17B10, HSD17B4, HSD3B7, HSPD1, HTRA2, HYAL1, IARS2, IBA57, IDH2, IDS, IDUA, IER3IP1, ISCA1, ISCA2, ISCU, ISPD, ITPA, IVD, KARS, KYNU, L2HGDH, LAMP2, LARGE1, LARS, LARS2, LBR, LCAT, LCT, LDHA, LDLR, LDLRAP1, LIAS, LIPA, LIPT1, LIPT2, LMBRD1, LONP1, LPIN1, LPL, LRPPRC, LYRM7, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MARS2, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MDH2, MECR, MFF, MFN2, MFSD8, MGAT2, MGME1, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRPL3, MRPL44, MRPS2, MRPS22, MRPS34, MSMO1, MSTO1, MTFMT, MTHFR, MTO1, MTPAP, MTR, MTRR, MTTP, MUT, MVK, NADK2, NAGA, NAGLU, NAGS, NARS2, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA4, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB3, NDUFB8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NFU1, NGLY1, NHLRC1, NNT, NPC1, NPC2, NSDHL, NT5C3A, NUBPL, OAT, OCRL, OPA1, OPA3, OTC, OXCT1, PAH, PANK2, PARS2, PC, PCBD1, PCCA, PCCB, PCK1, PCSK9, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PINK1, PLA2G6, PMM2, PMPCA, PMPCB, PNP, PNPLA8, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMGNT2, POMT1, POMT2, POR, PPA2, PPOX, PPT1, PRKAG2, PRODH, PRPS1, PSAP, PSAT1, PTS, PUS1, PYCR1, PYGL, PYGM, QDPR, QRSL1, RARS2, RBCK1, RBP4, RFT1, RMND1, RNASEH1, RPIA, RPL10, RRM2B, RTN4IP1, SACS, SAMHD1, SAR1B, SARS2, SC5D, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SERAC1, SETX, SFXN4, SGSH, SI, SKIV2L, SLC12A3, SLC16A1, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC2A1, SLC2A2, SLC30A10, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC6A19, SLC6A20, SLC6A3, SLC6A8, SLC7A7, SLC7A9, SMPD1, SPG7, SPR, SPTLC1, SPTLC2, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STS, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, TACO1, TALDO1, TANGO2, TAT, TAZ, TCN2, TFR2, TIMM50, TIMM8A, TK2, TMEM126B, TMEM165, TMEM5, TMEM70, TOP3A, TPK1, TPP1, TRAP1, TREX1, TRIM37, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TRPM6, TSFM, TTC19, TTC37, TTPA, TUFM, TUSC3, TWNK, TYMP, UGT1A1, UMOD, UMPS, UQCC2, UQCRB, UROD, UROS, VARS2, VIPAS39, VKORC1, VPS33B, WARS2, WDR45, WFS1, XDH, XYLT1, XYLT2

40503801

40 a 60 dias úteis

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