Exames Genéticos > Metabolico-NGS Voltar
 
 
Código
Metabolico-NGS
Doença(s)
Doenças metabólicas: sequenciamento - 502 genes
Gene / Região
AARS2, AASS, ABAT, ABCA1, ABCB11, ABCB4, ABCB7, ABCD1, ABCD4, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ADAR, AFG3L2, AGA, AGK, AGL, AGPS, AGXT, AIFM1, AKR1D1, ALAD, ALDH18A1, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG3, ALG6, ALG8, ALG9, AMACR, AMN, AMT, ANO10, APOA1, APOA5, APOC2, APOE, APOPT1, APRT, APTX, ARG1, ARSA, ARSB, ARSE, ASL, ASPA, ASS1, ATAD3A, ATIC, ATP13A2, ATP6V0A2, ATP7A, ATP7B, ATP8B1, ATPAF2, AUH, B3GALNT2, B3GALT6, B3GAT3, B4GALT1, B4GALT7, BAAT, BCKDHA, BCKDHB, BCKDK, BCS1L, BOLA3, BTD, C12orf65, C19orf12, CA5A, CAT, CBS, CHCHD10, CHKB, CHST14, CHST3, CHST6, CHSY1, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CNNM2, COG1, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX7B, CP, CPOX, CPS1, CPT1A, CPT2, CTH, CTNS, CTSA, CTSD, CTSK, CUBN, CYC1, CYP27A1, D2HGDH, DARS, DARS2, DBH, DBT, DDC, DGUOK, DHFR, DHTKD1, DLAT, DLD, DMPK, DNA2, DNAJC19, DNAJC5, DNM1L, DOLK, DPAGT1, DPM1, DPM2, DPYD, DPYS, DYM, EARS2, EBP, ECHS1, ELAC2, ENO3, EPG5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXT1, EXT2, FA2H, FAH, FAR1, FARS2, FASTKD2, FBP1, FBXL4, FH, FKRP, FKTN, FMO3, FOLR1, FOXRED1, FUCA1, FUT8, FXN, G6PC, G6PC3, GAA, GABRG2, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GARS, GATM, GBA, GBE1, GCDH, GCH1, GCLC, GDAP1, GFER, GFM1, GFPT1, GIF, GLA, GLB1, GLDC, GLRA1, GLRX5, GLUD1, GLYCTK, GM2A, GMPPB, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPD1, GPHN, GRHPR, GSS, GTPBP3, GUSB, GYG1, GYS1, GYS2, HADHA, HADHB, HAMP, HCCS, HCFC1, HEXA, HEXB, HFE, HFE2, HGD, HGSNAT, HIBCH, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HPRT1, HSD17B4, HSD3B7, HSPD1, HTRA2, HYAL1, IARS2, IBA57, IDH2, IDS, IDUA, IER3IP1, ISPD, ITPA, IVD, KARS, KYNU, L2HGDH, LAMP2, LARS2, LCAT, LCT, LDHA, LIAS, LIPA, LIPT1, LMBRD1, LONP1, LPIN1, LPL, LRPPRC, MAN1B1, MAN2B1, MARS2, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MDH2, MFF, MFN2, MFSD8, MGAT2, MGME1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOGS, MPDU1, MPI, MPV17, MRPS22, MSMO1, MTHFR, MTO1, MTR, MTRR, MTTP, MUT, NAGA, NAGLU, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NFU1, NGLY1, NHLRC1, NPC1, NPC2, NSDHL, NT5C3A, NUBPL, OAT, OPA1, OPA3, OTC, OXCT1, PAH, PC, PCBD1, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PLA2G6, PMM2, PMPCA, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMT1, POMT2, PPOX, PPT1, PRKAG2, PRODH, PSAP, PUS1, PYCR1, PYGL, PYGM, QDPR, RANBP2, RARS2, RBCK1, RFT1, RMND1, ROBO3, RPIA, RPL10, RRM2B, SACS, SAMHD1, SAR1B, SARS2, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SERAC1, SGSH, SI, SLC16A1, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC2A2, SLC30A10, SLC35C1, SLC35D1, SLC37A4, SLC39A4, SLC40A1, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC6A19, SLC6A20, SLC7A7, SMPD1, SPG7, SRD5A3, SSR4, ST3GAL5, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, TACO1, TALDO1, TAZ, TFR2, TIMM8A, TK2, TMEM165, TMEM5, TMEM70, TPK1, TPP1, TRIM37, TRMU, TRNT1, TRPM6, TSFM, TTC19, TUSC3, TYMP, UGT1A1, UMPS, UQCRQ, UROD, UROS, VARS2, WDR45, XDH, XYLT1, XYLT2 e YARS2
TUSS
40503801
Prazo de entrega
60 a 90 dias
Preço
R$ 2.790,00

Como solicitar o exame?


  • Entre em contato conosco por e-mail.
  • O médico e o paciente devem preencher os seguintes formulários:
    • Instrução para coleta - individual - 2017 - Fazer download
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Informações sobre o exame:


O painel compreende 502 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.

Entre em contato para solicitar o exame:


  • E-mail: especialista_cegh@ib.usp.br
    (em horário comercial)