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Facomatoses Assimétricas de Supercrescimento, Síndromes |
Painel por Sequenciamento de Próxima Geração |
AKT1, AKT3, GNAQ, GNAS, IDH1, IDH2, IKBKG, KRAS, NF1, NRAS, NSDHL, PIK3CA, PIK3R2, PORCN, PTCH1, PTEN, RASA1, SPRED1, TSC1, TSC2 |
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Supercrescimento Síndrome |
Painel por Sequenciamento de Próxima Geração |
AKT1, AKT2, AKT3, GNAS, MTOR, PIK3CA, PIK3R2 |
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Malformações Cerebrais |
Painel por Sequenciamento de Próxima Geração |
AKT3, ARFGEF2, ARX, C6ORF70, COL4A1, DCX, DYNC1H1, DYRK1A, EMX2, EOMES, FLNA, GPR56, HESX1, IER3IP1, KIF2A, KIF5C, MBD5, MEF2C, MTOR, NDE1, OCLN, PAFAH1B1, PAX6, PIK3CA, PIK3R2, RELN, SHH, SIX3, SRPX2, TBC1D24, TGIF, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, ZEB2, ZIC2 |
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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 |
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Câncer |
Painel por Sequenciamento de Próxima Geração |
ABCB1, ABCC1, ABCC2, ABCC3, ABCC4, ABCC6, ABCG2, ABL1, ABL2, ACTG1, ACVR1B, ACVR2A, AIP, AKT1, AKT2, AKT3, ALK, AMER1, APC, AR, ARAF, ARFRP1, ARID1A, ARID1B, ARID2, ASXL1, ATIC, ATM, ATR, ATRX, AURKA, AURKB, AXIN1, AXIN2, AXL, BAP1, BARD1, BCL10, BCL11A, BCL2, BCL2L1, BCL2L2, BCL6, BCOR, BCORL1, BCR, BIRC5, BLCAP, BLK, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRD3, BRD4, BRIP1, BTG1, BTK, BUB1, BUB1B, BUB3, C11ORF30, C17ORF108, C8ORF34, CAMK2G, CAMKK2, CARD11, CASP8, CBFB, CBL, CBR1, CBR3, CCND1, CCND2, CCND3, CCNE1, CD19, CD22, CD274, CD33, CD52, CD74, CD79A, CD79B, CDA, CDC25C, CDC42, CDC73, CDH1, CDK1, CDK12, CDK2, CDK4, CDK5, CDK6, CDK7, CDK8, CDK9, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, CEBPA, CEP57, CHD2, CHD3, CHD4, CHEK1, CIC, CNTNAP1, CNTNAP2, COL22A1, COMT, CREBBP, CRKL, CSF1R, CSMD1, CSMD3, CTCF, CTLA4, CTNNA1, CTNNB1, CUL3, CXCL10, CXCL8, CXCR4, CYLD, CYP19A1, CYP1A1, CYP1A2, CYP1B1, CYP2A6, CYP2B6, CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP2E1, CYP3A4, CYP3A5, CYP4B1, DAXX, DDB2, DDR2, DHFR, DICER1, D |
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Macrocefalia, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
ABCC6, AKT1, AKT3, ASPA, BRWD3, CCND2, CDKN1C, CHD8, CUL4B, DIS3L2, DNMT3A, EIF2B5, EZH2, GFAP, GLI3, GNAQ, GPC3, GPSM2, GRIA3, HEPACAM, HUWE1, KIAA0196, KIF7, KPTN, L1CAM, MED12, MLC1, NFIX, NSD1, OFD1, PIK3CA, PIK3R2, PTCH1, PTEN, RAB39B, RNF135, SETD2, SNX14, STRADA, SYN1, TBC1D7, TSC1, TSC2, UPF3B |
