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DKC1

Exames relacionados Estratégia de Análise Gene relacionado
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
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
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
Disqueratose Congenita Sequenciamento Completo do Gene DKC1
Imunodeficiência Comum Variável Autossômica Recessiva Painel por Sequenciamento de Próxima Geração AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, DKC1, DNMT3B, ICOS, IGLL1, LRBA, LRRC8A, MS4A1, NFKB2, PIK3CD, PIK3R1, PRKCD, RTEL1, TCF3, TCF4, TNFRSF13B, TNFRSF13C, TNFSF12, UNG
Doenças Autossômicas Recessivas Painel para Análise de Mutação ABCA4, ABCB7, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACE, ACOX1, ACTN4, ADA, ADAMTS2, ADAMTSL2, ADCK3, AGA, AGL, AGPS, AGT, AGTR1, AGXT, AHI1, AIPL1, ALAS2, ALDH4A1, ALDH5A1, ALDOA, ALDOB, ALG1, ALG6, ALMS1, ALPL, AMACR, AMT, ANO5, APTX, AR, ARG1, ARL13B, ARL6, ARSA, ARSB, ARSE, ARX, ASL, ASPA, ASPM, ASS1, ATIC, ATP7A, ATP7B, ATR, AUH, B4GALT1, B9D2, BCKDHA, BCKDHB, BCS1L, BEST1, BRCA2, BRIP1, BSCL2, BSND, BTD, BTK, C10ORF2, C3, CA2, CAPN3, CBS, CC2D2A, CD2AP, CD40LG, CDH23, CDH3, CDHR1, CDK5RAP2, CENPJ, CEP152, CEP290, CERKL, CFH, CFTR, CHST6, CLCN1, CLCN7, CLDN14, CLDN19, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGB1, CNGB3, COL11A1, COL17A1, COL18A1, COL1A2, COL2A1, COL4A3, COL4A4, COL7A1, COL9A1, COL9A2, COQ2, CPS1, CPT1A, CPT2, CRB1, CRLF1, CRTAP, CRX, CSTB, CTNS, CTSD, CTSK, CYP21A2, CYP4V2, CYP7B1, D2HGDH, DBT, DCLRE1C, DDB2, DDC, DFNB31, DFNB59, DGUOK, DHCR7, DHDDS, DKC1, DLD, DLL3, DMD, DMP1, DNAJC19, DPAGT1, DPM1, DPYD, DSP, DYSF, EDA, EDN3, EDNRB, EGR2, EIF2AK3, EMD, ENO3, ENPP1, ERCC2, ERCC3
Subscrever DKC1