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OAT

Exames relacionados Estratégia de Análise Gene relacionado
Retinopatias, Painel Expandido Painel por Sequenciamento de Próxima Geração ABCA4, ABCC6, ABCD1, ABHD12, ACO2, ADAM9, ADGRV1, AGBL5, AHI1, AHR, AIPL1, ALMS1, AMACR, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARSG, ATF6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C12ORF65, C1QTNF5, C2ORF71, C5orf42, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CASK, CC2D2A, CDH23, CDH3, CDHR1, CEP290, CEP41, CERKL, CFH, CHM, CIB2, CISD2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGB1, CNGB3, CNNM4, CRB1, CRX, CTSD, CYP4V2, DFNB31, DHDDS, DHX38, DNAJC5, EFEMP1, ELOVL4, EYS, FAM161A, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GJB2, GJB6, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HGSNAT, HK1, HMCN1, HMX1, IDH3B, IFT140, IFT172, IFT43, IMPDH1, IMPG2, IQCB1, ITM2B, KCNJ13, KCNV2, KCTD7, KIF7, KIZ, KLHL7, LAMA1, LCA5, LRAT, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MVK, MYO7A, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OTX2, PAX6, PCARE, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G
Erros Inatos do Metabolismo do Ciclo da Ureia Painel por Sequenciamento de Próxima Geração ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ALDH4A1, ARG1, ASL, ASS1, AUH, BCKDHA, BCKDHB, BTD, CBS, CFTR, CPS1, CPT1A, CPT2, DBT, DECR1, ETFA, ETFB, ETFDH, ETHE1, FAH, FTCD, G6PD, GAA, GALE, GALK1, GALT, GCDH, GCH1, GLA, HADH, HADHA, HADHB, HLCS, HMGCL, HSD17B10, IVD, MAT1A, MCCC1, MCCC2, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTRR, MUT, OAT, OTC, PAH, PCBD1, PCCA, PCCB, PRODH, PTS, QDPR, SLC22A5, SLC25A13, SLC25A20, TAZ
Distrofia de Retina / Fotoreceptor Painel por Sequenciamento de Próxima Geração ABCA4, ADAM9, AIPL1, BBS1, BEST1, C1QTNF5, C2ORF71, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CDH3, CDHR1, CEP290, CERKL, CHM, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, CRB1, CRX, CYP4V2, DHDDS, EFEMP1, ELOVL4, EYS, FAM161A, FLVCR1, FSCN2, FZD4, GNAT1, GNAT2, GPR179, GRM6, GUCA1A, GUCA1B, GUCY2D, IDH3B, IMPDH1, IMPG2, IQCB1, KCNJ13, KCNV2, KLHL7, LCA5, LRAT, LRIT3, LRP5, MAK, MERTK, MFN2, NDP, NR2E3, NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, PAX6, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PITPNM3, PLA2G5, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, SLC24A1, SNRNP200, SPATA7, TIMM8A, TIMP3, TMEM126A, TOPORS, TRPM1, TSPAN12, TTC8, TULP1, UNC119, USH2A, VCAN, ZNF513
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