ERROS INATOS DO METABOLISMO BATERIAS DE TESTES QUÍMICOS DE TRIAGEM EM URINA (MÍNIMO DE
Material coletado: Sangue total com EDTA
Prazo: 30 dias
Jejum: Não obrigatório
Observação: O exame Painel para Erros Inatos do Metabolismo analisa os seguintes genes SLC46A1,MTRR,GLDC,MPI,LIPA,GCSH,NAGLU,PSPH,GAMT,ARSA,CUBN,PDHX,CPT1A,G6PD,G6PC,PHKA2,ALDH3A2,CYP27A1,BTD,ETHE1,ALDH7A1,HPD,MMADHC,GCDH,SLC22A5,GNS,ACAT1,CYB5R3,HLCS,SI,SLC19A3,ASL,ARSB,SLC19A2,PDHA1,INSR,SLC52A3,MTHFR,PHKB,COQ9,CP,QDPR,GLUD1,COQ2,SLC6A8,CPS1,TCN2,TH,CYP11B1,PAH,ALPL,TPP1,MAN2B1,DHCR7,GALK1,ACADVL,MOCS2,GBE1,TAT,SLC2A1,SLC2A2,ETFA,MTR,PYGM,ETFB,PYGL,SGSH,GYS2,GYS1,ATP7B,AUH,CPT2,SPR,SMPD1,DBT,IDS,PHGDH,ACADM,DLAT,HMGCS2,ATP7A,SLC37A4,GUSB,ABCD1,PGM1,BCKDHA,HGSNAT,AMN,ARG1,GIF,ABCC8,GAA,BCKDHB,PGAM2,AMT,MUT,HADHB,HADHA,SLC25A15,LMBRD1,ALDH5A1,NPC1,PCCA,CYP21A2,NPC2,SLC7A9,IVD,PCCB,ALDOB,DLD,FBP1,MOCS1,SLC25A13,GALT,IDUA,GBA,ETFDH,HSD17B10,PTS,CYP17A1,HMGCL,CBS,OXCT1,PDSS2,PCBD1,PDSS1,AGA,SLC25A20,CYB5A,SLC16A1,GCH1,KCNJ11,MMAA,MMAB,AGL,CTNS,FAH,APTX,ASS1,GCK,GALE,GATM,GLB1,PSAT1,NAGS,FOLR1,GLA,PFKM,MMACHC,OTC.