Doenças metabólicas

Doenças Metabólicas

Lista de Genes
AARS2, AASS, ABAT, ABCA1, ABCB11, ABCB4, ABCB7, ABCD1, ABCD4, ABCG2, ABCG5, ABCG8, ABHD12, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACO2, ACOX1, ACSF3, ACY1, ADA, ADAR, ADSL, AFG3L2, AGA, AGK, AGL, AGPAT2, AGPS, AGXT, AHCY, AIFM1, AKR1D1, AKT2, ALAD, ALAS2, ALDH18A1, ALDH1B1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, AMACR, AMN, AMPD1, AMT, ANO10, AOX1, APOA1, APOA5, APOB, APOC2, ApoE, APRT, APTX, ARG1, ARSA, ARSB, ARSG, ARSK, ARSL, ASAH1, ASL, ASPA, ASS1, ATAD3A, ATAD3B, ATIC, ATP13A2, ATP5F1A, ATP5F1B, ATP5F1C, ATP5F1D, ATP5F1E, ATP5MC1, ATP5MC2, ATP5MC3, ATP5ME, ATP5PF, ATP5PO, ATP6AP1, ATP6V0A2, ATP7A, ATP7B, ATP8B1, ATPAF2, ATXN7, AUH
B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, BAAT, BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK, BCS1L, BOLA1, BOLA3, BSCL2, BTD
C19ORF12, C1GALT1C1, C1QBP, CA5A, CACNA1S, CAD, CARS2, CAT, CAV1, CAV3, CAVIN1, CBLIF, CBS, CCDC115, CD320, CEP89, CETP, CHCHD10, CHKB, CHST14, CHST3, CHST6, CHSY1, CISD2, CLCN1, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CLPS, CNDP1, CNNM2, COA1, COA3, COA5, COA6, COA7, COA8, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX5A, COX5B, COX6A1, COX6B1, COX6C, COX7A1, COX7A2, COX7B, COX7B2, COX7C, COX8A, CP, CPOX, CPS1, CPT1A, CPT2, CRPPA, CSGALNACT1, CSTB, CTH, CTNS, CTSA, CTSC, CTSD, CTSK, CUBN, CYC1, CYCS, CYP27A1, CYP7A1, CYP7B1
D2HGDH, DARS1, DARS2, DBH, DBT, DCC, DCXR, DDC, DDOST, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHFR2, DHODH, DHTKD1, DLAT, DLD, DLST, DMGDH, DMPK, DNA2, DNAJC12, DNAJC19, DNAJC5, DNM1L, DNM2, DOLK, DPAGT1, DPEP1, DPM1, DPM2, DPM3, DPYD, DPYS, DTD1, DYM
EARS2, EBP, ECHS1, ECSIT, EGF, EHBP1L1, EHHADH, ELAC2, ENO3, EOGT, EPG5, EPM2A, EPRS1, ERAL1, ERCC6L2, ETFA, ETFB, ETFDH, ETHE1, EXT1, EXT2
FA2H, FAH, FAR1, FARS2, FASTKD2, FBP1, FBP2, FBXL4, FCSK, FDX2, FDXR, FECH, FGFR2, FH, FKRP, FKTN, FLAD1, FMO3, FOLR1, FOLR2, FOLR3, FOXRED1, FTCD, FUCA1, FUT8, FXN, FXYD2
G6PC1, G6PC3, GAA, GABRG2, GALC, GALE, GALK1, GALM, GALNS, GALNT12, GALNT2, GALNT3, GALT, GAMT, GARS1, GATB, GATC, GATM, GBA1, GBE1, GCDH, GCH1, GCK, GCLC, GCSH, GDAP1, GFER, GFM1, GFM2, GFPT1, GGT1, GK, GLA, GLB1, GLDC, GLRA1, GLRX5, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPD1, GPHN, GRHPR, GSS, GTPBP3, GUSB, GYG1, GYS1, GYS2
HAAO, HADH, HADHA, HADHB, HAL, HAMP, HARS2, HCCS, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HJV, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HOGA1, HPD, HPRT1, HPS1, HS2ST1, HSD17B10, HSD17B4, HSD3B7, HSPA9, HSPD1, HTRA2, HYAL1, HYKK
IARS2, IBA57, IDH1, IDH2, IDH3B, IDS, IDUA, IER3IP1, INSR, ISCA1, ISCA2, ISCU, ITPA, IVD
KARS1, KCNA1, KCNJ11, KCNJ2, KHK, KYNU
L2HGDH, LACTB, LAMP2, LARGE1, LARS1, LARS2, LBR, LCAT, LCT, LDHA, LDLR, LDLRAP1, LETM1, LFNG, LIAS, LIPA, LIPC, LIPI, LIPT1, LIPT2, LMBRD1, LONP1, LPIN1, LPL, LRPPRC, LYRM4, LYRM7
MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MARS2, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MDH2, MECR, MFF, MFN2, MFSD8, MGAT2, MGME1, MICOS13, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRM2, MRPL12, MRPL3, MRPL40, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23, MRPS34, MRPS7, MSMO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, MTHFD1, MTHFR, MTO1, MTPAP, MTR, MTRFR, MTRR, MTTP, MVK
NADK2, NAGA, NAGLU, NAGS, NARS2, NAT8L, NAXD, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA3, NDUFA4, NDUFA5, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAB1, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB1, NDUFB10, NDUFB11, NDUFB2, NDUFB3, NDUFB4, NDUFB5, NDUFB6, NDUFB7, NDUFB8, NDUFB9, NDUFC1, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEU1, NFS1, NFU1, NGLY1, NHLRC1, NNT, NPC1, NPC2, NSDHL, NSUN3, NT5C, NT5C3A, NUBPL, NUP62, NUS1
OAT, OCRL, OGDH, OPA1, OPA3, OPLAH, OTC, OXA1L, OXCT1
PAH, PANK2, PARS2, PC, PCBD1, PCCA, PCCB, PCK1, PCK2, PCSK9, PCYT2, PDHA1, PDHB, PDHX, PDK1, PDK2, PDK3, PDK4, PDP1, PDP2, PDPR, PDSS1, PDSS2, PDX1, PDXK, PEPD, PET100, PET117, PEX1, PEX10, PEX11A, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHYH, PHYKPL, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PINK1, PITRM1, PLA2G6, PLIN1, PLPBP, PMM2, PMPCA, PMPCB, PNLIP, PNP, PNPLA2, PNPLA4, PNPLA8, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POP1, POR, PPA2, PPARG, PPM1B, PPM1K, PPOX, PPT1, PREPL, PRKAG2, PRODH, PRPS1, PSAP, PSAT1, PSPH, PTCD1, PTCD3, PTPRZ1, PTS, PUS1, PYCR1, PYGL, PYGM
QARS1, QDPR, QRSL1
RANBP2, RARS2, RBCK1, RBP4, RFT1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROBO3, RPIA, RPL10, RRM2B, RTN4IP1, RXYLT1, RYR1
SACS, SAMHD1, SAR1B, SARDH, SARS2, SC5D, SCARB1, SCN4A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SERAC1, SETX, SFXN4, SGSH, SHMT2, SHPK, SI, SKIC2, SKIC3, SLC12A3, SLC16A1, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC22A4, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A2, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A40, SLC25A42, SLC25A46, SLC27A5, SLC2A1, SLC2A2, SLC30A10, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC36A2, SLC37A4, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC46A1, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC5A6, SLC6A19, SLC6A20, SLC6A3, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SPG7, SPR, SPTLC1, SPTLC2, SRD5A3, SRRT, SSBP1, SSR3, SSR4, ST3GAL3, ST3GAL5, STAT2, STS, STT3A, STT3B, SUCLA2, SUCLG1, SUCLG2, SUGCT, SUMF1, SUOX, SURF1
TACO1, TAFAZZIN, TALDO1, TANGO2, TARS2, TAT, TCN1, TCN2, TDO2, TFAM, TFR2, TH, TIMM44, TIMM50, TIMM8A, TIMMDC1, TK2, TKFC, TM6SF2, TMEM126A, TMEM126B, TMEM165, TMEM199, TMEM65, TMEM70, TOP3A, TPK1, TPMT, TPP1, TRAP1, TRAPPC11, TREH, TREX1, TRIM37, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TRPM6, TSFM, TTC19, TTPA, TUFM, TUSC3, TWNK, TXN2, TYMP
UGT1A1, UMOD, UMPS, UPB1, UQCC2, UQCC3, UQCRB, UQCRC1, UQCRC2, UQCRFS1, UQCRH, UQCRQ, UROC1, UROD, UROS, USF1
VARS2, VIPAS39, VKORC1, VPS13C, VPS33B
WARS2, WDR45, WFS1
XDH, XPNPEP3, XYLT1, XYLT2
YARS2, YME1L1
ZMPSTE24
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido