Erros Inatos do Metabolismo - Painel Genético
Instruções para paciente
Pesquisa genética de 125 genes para identificar erros inatos do metabolismo.Genes estudados no painel
ABCC8, ABCD1, ACADM, ACADVL, ACAT1, AGL, ALDH7A1, ALDOB, ARG1,ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, AUH, BCKDHA,
BCKDHB, BCKDK,BTD, CBS, COQ2, COQ9,CPS1, CPT1A, CPT2, CTNS, CYB5A, CYB5R3, CYP11B1, CYP17A1, CYP21A2, CYP27A1, DBT, DLD, ETFA, ETFB, ETFDH, ETHE1, FAH, FBP1, FOLR1, G6PC, G6PD, GAA,GALE, GALK1,GALT, GAMT, GATM, GBA, GBE1,GCDH,GCK, GLA, GLB1,GLUD1, GUSB, GYS2, HADH, HADHA, HADHB, HGD, HLCS, HMGCL, HMGCS2, HPD, IDS, IDUA, INSR, IVD, KCNJ11, LIPA,LMBRD1,MMAA, MMAB, MMACHC, MMADHC, MOCS1, MPI,MTHFR,MTR, MTRR, MUT, NAGLU, NAGS, NPC1, NPC2, OTC, OXCT1, PAH, PCBD1, PCCA, PCCB, PDSS1, PDSS2, PGM1, PHGDH, PHKA2,PSAT1,PSPH, PTS,PYGL, QDPR, SGSH, SI, SLC16A1, SLC19A2, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC2A1, SLC2A2, SLC37A4, SLC46A1, SLC52A2, SLC52A3, SLC7A9, SMPD1, TAT, TCN2, TPP1.