SEQUENCIAMENTO DE NOVA GERAÇÃO (NGS) E CNV
GENES ANALISADOS
GENES ANALISADOS
ABCC8, ABCD1, ACADM, ACADVL, ACAT1, AGL, ALDH7A1, ALDOB, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, AUH, BCKDHA, BCKDHB, BCKDK, BTD, COQ2, COQ9, CPS1, CPT1A, CPT2, CTNS, CYB5A, CYB5R3, CYP11B1, CYP17A1, CYP27A1, DBT, DLD, ETFA, ETFB, ETFDH, ETHE1, FAH, FBP1, FOLR1, G6PC1, G6PD, GAA, GALE, GALK1, GALT, GAMT, GATM, GBA1, GBE1, GCDH, GCK, GLA, GLB1, GLUD1, GUSB, GYS2, HADH, HADHA, HADHB, HEXA, HGD, HLCS, HMGCL, HMGCS2, HPD, IDS, IDUA, INSR, IVD, KCNJ11, LIPA, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MPI, MTHFR, MTR, MTRR, MMUT, 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, RNASEH2B