Testes nesta página referem-se a Doenças Metabólicas.
A Encodexa oferece testes genéticos para todas essas condições, permitindo um diagnóstico preciso e um melhor planejamento da conduta terapêutica.
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Doenças de Depósito de Glicogênio, Principais Genes (M1050) 12 genes
Doença de depósito de glicogênio 0 / II / IIIa / IIIb / IV / V / VII / X / XIII, Doença de corpos de Poliglucosano do adulto, Doença de Danon, Deficiência Congênita de Glicosilação It, Deficiência de Fosforilase-quinase do fígado e músculo, Doença de Depósito de Glicogênio do Coração, Doença de McArdle
Genes Analisados
AGL, ENO3, GAA, GBE1, GYS1, LAMP2, PFKM, PGAM2, PGM1, PHKB, PRKAG2, PYGM
Erros Inatos do Metabolismo, Principais Genes (M1051) 102 genes
Painel para avaliação de Doenças Metabólicas e Erros Inatos do Metabolismo. Contém os principais genes com evidências científicas atuais
Genes Analisados
ACAD9, ACADL, ACADM, ACADS, ACADVL, ACSF3, AGA, AGL, ALDH5A1, ARSA, ARSB, ASL, ASS1, ATPAF2, AUH, BCKDHA, BCKDHB, CD320, CLN3, CLN5, CLN6, CLN8, CPS1, CPT1A, CPT2, CYP27A1, DBT, DLD, ENO3, ETFA, ETFB, ETFDH, G6PC, GAA, GALC, GALNS, GBA, GBE1, GLA, GLB1, GM2A, GNPTAB, GYS1, GYS2, HADHA, HADHB, HGSNAT, HLCS, HMGCL, HMGCS2, HYAL1, IDS, IDUA, IVD, LIPA, LMBRD1, LPIN1, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MFSD8, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGA, NAGLU, NAGS, NEU1, NPC1, NPC2, OPA3, OTC, PC, PCCA, PCCB, PFKM, POLG, PPT1, PYGL, PYGM, SGSH, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC37A4, SLC7A7, SMPD1, SUCLG1, SUMF1, TAZ, TMEM70, TPP1
Erros Inatos do Metabolismo, Painel Expandido (M1052) 161 genes
Painel para avaliação de Doenças metabólicas e Erros inatos do Metabolismo. Contém os principais genes com evidência científica atual incluindo genes para os erros inatos tratáveis.
Genes Analisados
ACAD9, ACADL, ACADM, ACADS, ACADVL, ACSF3, AGA, AGL, ALDH5A1, ARSA, ARSB, ASL, ASS1, ATPAF2, AUH, BCKDHA, BCKDHB, CD320, CLN3, CLN5, CLN6, CLN8, CPS1, CPT1A, CPT2, CYP27A1, DBT, DLD, ENO3, ETFA, ETFB, ETFDH, G6PC, GAA, GALC, GALNS, GBA, GBE1, GLA, GLB1, GM2A, GNPTAB, GYS1, GYS2, HADHA, HADHB, HGSNAT, HLCS, HMGCL, HMGCS2, HYAL1, IDS, IDUA, IVD, LIPA, LMBRD1, LPIN1, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MFSD8, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGA, NAGLU, NAGS, NEU1, NPC1, NPC2, OPA3, OTC, PC, PCCA, PCCB, PFKM, POLG, PPT1, PYGL, PYGM, SGSH, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC37A4, SLC7A7, SMPD1, SUCLG1, SUMF1, TAZ, TMEM70, TPP1, ABCC8, ABCD1, ACAT1, ALDH7A1, ALDOB, ARG1, ATP7A, ATP7B, BTD, CBS, CPS1, CTNS, CYP11B1, CYP17A1, CYP21A2, ETHE1, FAH, FBP1, FOLR1, G6PD, GALE, GALK1, GALT, GAMT, GATM, GCDH, GCK, GLUD1, GUSB, HADH, HPD, INSR, KCNJ11, MOCS1, MPI, MTHFR, NAGLU, OXCT1, PAH, PCBD1, PGM1, PHGDH, PHKA2, PSAT1, PSPH, PTS, QDPR, SI, SLC16A1, SLC19A2, SLC19A3, SLC2A1, SLC2A2, SLC37A4, SLC46A1, SLC52A3, SLC7A9, TAT, TCN2
CASR, CYP21A2, CYP11B1, CYP17A1, HSD3B2, STAR, ABCC8, GCK, GLUD1, INSR, KCNJ11, NR0B1, FOXE1, NKX2-5, PAX8, THRA, TRHR, TSHB, TSHR, NKX2-1, VDR, PHEX, CYP27B1, CYP2R1, THRB, SLC26A4, BLNK, CD79A, CD79B, IGLL1, LRRC8A, BTK, GATA2, CD247, CD3D, CD3E, CD3G, CORO1A, FOXN1, ORAI1, ZAP70, MPO, MYD88, RAC2, AK2, CYBA, CYBB, NCF2, NCF4, AICDA, CD40, CD40LG, UNG, ADA, BCL10, CIITA, DCLRE1C, IL2RG, IL7R, IRF8, JAK3, NHEJ1, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP, TAP1, TAP2, TAPBP, MAGT1, FOXP3, PRF1, STX11, STXBP2, UNC13D, G6PC3, GFI1, HAX1, ELANE, WAS, WIPF1, SH2D1A, XIAP, IFNGR1, IFNGR2, IL12B, IL12RB1, IL2RA, STAT1, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACSF3, AGA, AGL, ALDH5A1, ARSA, ARSB, ASL, ASS1, ATPAF2, AUH, BCKDHA, BCKDHB, CD320, CLN3, CLN5, CLN6, CLN8, CPS1, CPT1A, CPT2, CYP27A1, DBT, DLD, ENO3, ETFA, ETFB, ETFDH, G6PC, GAA, GALC, GALNS, GBA, GBE1, GLA, GLB1, GM2A, GNPTAB, GYS1, GYS2, HADHA, HADHB, HGSNAT, HLCS, HMGCL, HMGCS2, HYAL1, IDS, IDUA, IVD, LIPA, LMBRD1, LPIN1, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MFSD8, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGA, NAGLU, NAGS, NEU1, NPC1, NPC2, OPA3, OTC, PC, PCCA, PCCB, PFKM, POLG, PPT1, PYGL, PYGM, SGSH, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC37A4, SLC7A7, SMPD1, SUCLG1, SUMF1, TAZ, TMEM70