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Erros Inatos do Metabolismo Painel por Sequenciamento de Próxima Geração ABCC8, ABCD1, ACADM, ACADVL, ACAT1, AGL, ALDH7A1, ALDOB, ARG1, ARSA, ARSB, ASL, ASS1, ATP7A, ATP7B, BCKDHA, BCKDHB, BCKDK, BTD, CBS, CPS1, CPT1A, CPT2, CTNS, CYP11B1, CYP17A1, CYP21A2, DBT, DLD, ETFA, ETFB, ETFDH, ETHE1, FAH, FBP1, FOLR1, G6PC, G6PD, GAA, GALE, GALK1, GALT, GAMT, GATM, GBA, GBE1, GCDH, GCK, GLB1, GLUD1, GUSB, GYS2, HADH, HADHA, HADHB, HLCS, HMGCL, HMGCS2, HPD, IDS, IDUA, INSR, IVD, KCNJ11, LIPA, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MPI, MTHFR, MTR, MTRR, MUT, NAGLU, NAGS, OTC, OXCT1, PAH, PCBD1, PCCA, PCCB, PGM1, PHGDH, PHKA2, PSAT1, PSPH, PTS, PYGL, QDPR, SGSH, SI, SLC16A1, SLC19A2, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC2A1, SLC2A2, SLC37A4, SLC46A1, SLC52A2, SLC52A3, SLC7A9, TAT, TCN2, TPP1, GLA, NPC1, NPC2, SMPD1
Deficiência Intelectual Ligada ao X Painel por Sequenciamento de Próxima Geração ABCD1, ACSL4, AFF2, AGTR2, AIFM1, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, EBP, EIF2S3, FAAH2, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, GDI1, GK, GPC3, GRIA3, GSPT2, HCCS, HCFC1, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KIAA2022, KLF8, L1CAM, LAMP2, LAS1L, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, OCRL, OFD1, OGT, OPHN1, OTC, PAK3, PCDH19, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TAF1, THOC2, TIMM8A, TSPAN7, UBE2A, UPF3B, USP9X, WDR13, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZMYM3, ZNF41, ZNF711, ZNF81
Mucopolissacaridose Análise de Rearranjo IDS
Mucopolissacaridose Sequenciamento Completo do Gene IDS
Mucopolissacaridose Análise de Mutação já Detectada na Família - Pré Natal IDS
Mucopolissacaridose Análise de Mutação já Detectada na Família IDS
Malformações Cerebrais / Transtorno de Migração Neuronal, Painel Expandido Painel por Sequenciamento de Próxima Geração ACTB, ACTG1, ADAR, ADGRG1, AFF2, AGTR2, AKT1, AKT3, ALDH7A1, AP1S2, ARFGEF2, ARHGEF15, ARHGEF6, ARX, ASAH1, ASPA, ASPM, ATP13A2, ATP6AP2, BRWD3, C19ORF12, CACNA1H, CACNB4, CASK, CASR, CCND2, CDK5, CDK5RAP2, CDKL5, CDON, CECR1, CENPJ, CEP152, CHD2, CHD8, CHRNA2, CHRNA4, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLP1, CNTNAP2, COL4A1, COL4A2, CP, CSTB, CUL4B, CYP27A1, DARS, DCAF17, DCX, DEPDC5, DIS3L2, DISP1, DKC1, DLG3, DLL1, DOK7, DYRK1A, EEF1A2, EFHC1, EIF2B3, EIF2B5, EIF2S3, EMX2, EOMES, EPM2A, EXOSC3, EZH2, FA2H, FGD1, FGF8, FGFR3, FLNA, FOXG1, FOXH1, FTL, FTSJ1, GABRA1, GABRD, GABRG2, GALC, GAMT, GAS1, GDI1, GK, GLDC, GLI2, GLI3, GNAQ, GOSR2, GPC3, GPSM2, GRIA3, GRIN2A, HCFC1, HCN1, HDAC8, HEPACAM, HERC2, HGSNAT, HNRNPDL, HPRT1, HSD17B10, HTRA1, HUWE1, IDS, IFIH1, IGBP1, IKBKAP, IL1RAPL1, IQSEC2, ITM2B, JAM3, KATNB1, KCNH5, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIAA2022, KIF1BP, KIF2A, KIF5C, KIF7, KLF8, KPTN, L1CAM, LAMB1, LGI1, MAGT1, MAOA, MBD5, MBTPS2, MCPH1, MECP2, MED12, MEF2C, MID1, MLC1, MYBPC1, NAA10, NDE1
Mucopolissacaridose Análise de Deleção/Duplicação IDS
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