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Imunodeficiência e Doenças Imunológicas |
Painel por Sequenciamento de Próxima Geração |
A2ML1 ABCD4, ACD ACP5, ADA, ADAM17, ADNP, AGA, AICDA, AIRE, AK2, ALG1, ALG12, AP3B1, ARMC4 ARPC1B, ATM, B2M, BCL10, BCL11B, BLM, BLNK, BRCA1, BRCA2, BRIP1, BTK, BUB1B, C11orf70, C1QA, C1QB C1QC, C1R, C1S, C2, C21orf59, C3, C5, C6, C7, C8A, C8B, C8ORF37, CARD11, CARD9, CASP10, CASP8, CCBE1 CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G CD40, CD40LG, CD55, CD59, CD79A, CD79B, CD81, CD8A, CDCA7, CDSN, CEBPE, CECR1, CFB, CFD, CFH, CFI CFP, CHAMP1, CHD1, CHD7, CIITA, CLEC7A, CLPB, COG6, COG7, CORO1A, CPN1, CR2, CREBBP, CRIPT, CSF3R CTC1, CTLA4, CTPS1, CXCR4, CYBA, CYBB, DCLRE1C, DEAF1, DHFR, DKC1, DNAAF1, DNAAF2, DNAAF3, DNAAF5 DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC21, DNAL1, DNASE1L3, DNMT3B, DOCK2, DOCK8, DRC1, DSG1 DYX1C1, EFL1, EGFR, ELANE, EPG5, ERCC2, ERCC4, ERCC6L2, ETV6, EXTL3, F12, FADD, FANCA, FANCB FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAZ, FASLG, FAT4, FBXL4, FCGR2C, FCGR3A FCN3, FERMT3, FMO3, FOXN1, FOXP3, G6PC3, GALNS, GAS8, GATA1, G |
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Encefalopatias (Mitocondrial/Epiléptico) |
Painel por Sequenciamento de Próxima Geração |
AARS2, ABCB7, ABCD1, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACOX1, ACTG2, ADAR, ADCK3, ADCK4, AFG3L2, AGK, AGL, AGRN, AIFM1, AIMP1, ALAS2, ALDH3A2, ALDH7A1, ALG14, ALG2, AMACR, ANO10, APOPT1, APTX, ARG1, ARHGEF15, ARHGEF9, ARSA, ARX, ASAH1, ASPA, ATP13A2, ATP1A2, ATP1A3, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCS1L, BOLA3, C10ORF2, C12ORF65, C19ORF12, CACNA1A, CACNA1H, CACNB4, CAD, CARS2, CASR, CCDC115, CDKL5, CHAT, CHCHD10, CHD2, CHD8, CHKB, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CLCN4, CLN3, CLN5, CLN6, CLP1, CLPB, CLPP, COL4A1, COL4A2, COLQ, COQ2, COQ4, COQ6, COQ7, COQ9, COX10, COX14, COX15, COX4I2, COX6B1, COX8A, CP, CPT1A, CPT2, CSF1R, CSTB, CYP27A1, DARS2, DCAF17, DEPDC5, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNAJC3, DNM2, DOCK7, DOK7, DPAGT1, DPM2, DYRK1A, EARS2, ECHS1, EEF1A2, EFHC1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPG5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXOSC8, FA2H, FAM126A, FARS2, FASTKD2, FBXL4, FDX2, FLAD1, FOLR1, FOXG1, FOXRED1, FTL, FUCA1, GABRA1, GABRD, GABRG2, GALC, GAMT |
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Neuropatia, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
AAAS, AARS, ABCA1, ABHD12, ACTA1, ADAR, AGRN, AIFM1, ALG14, ALG2, ALS2, AMACR, ANG, ANO5, ARHGEF10, ASAH1, ASCC1, ATL1, ATL3, ATM, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, C12ORF65, CAPN3, CASQ1, CCDC78, CCT5, CFL2, CHAT, CHCHD10, CHKB, CHMP2B, CHRNA1, CHRNB1, CHRND, CHRNE, CLP1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COX10, COX6A1, CTDP1, CYP27A1, DAG1, DCAF8, DCTN1, DES, DGAT2, DHTKD1, DMD, DNAJB2, DNAJB5, DNM2, DNMT1, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DST, DYNC1H1, DYSF, EGR2, EMD, EPG5, EXOSC3, EXOSC8, FAM126A, FAM134B, FBLN5, FBXO38, FGD4, FHL1, FIG4, FKBP14, FKRP, FKTN, FUS, FXN, GAA, GALC, GAN, GARS, GBA, GBE1, GDAP1, GFPT1, GJB1, GLA, GMPPB, GNB4, GSN, GYG1, HADHA, HADHB, HARS, HEXA, HINT1, HK1, HMBS, HNRNPA1, HNRNPA2B1, HNRNPDL, HSPB1, HSPB3, HSPB8, IFRD1, IGHMBP2, IKBKAP, INF2, ISPD, ITGA7, KARS, KBTBD13, KIF1A, KIF5A, KLHL13, KLHL40, KY, LAMA2, LAMB2, LAMP2, LARGE1, LAS1L, LIMS2, LITAF, LMNA, LMOD3, LRP4, LRSAM1, MARS, MATR3, MED25, MEGF10, MFN2, MICAL1, MICU1, MORC2 |
