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Câncer Hereditário |
Painel por Sequenciamento de Próxima Geração |
ACD, AIP, AKT1, ALK, ANKRD26, APC, ARMC5, ASCL1, ASXL1, ATM, ATR, AXIN2, BAP1, BARD1, BDNF, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CASP10, CASP9, CBL, CDC73, CDH1, CDH23, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CREBBP, CSF3R, CTC1, CTNNA1, CTNNB1, CYLD, DDB2, DDX41, DICER1, DIS3L2, DKC1, DNAJC21, DNMT3B, DOCK8, EDN3, EGFR, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ETV6, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FH, FLCN, G6PC, GATA1, GATA2, GDNF, GLMN, GNAS, GPC3, GREM1, H19, HCLS1, HNF1A, HOXB13, HRAS, IPMK, JAG1, JAK2, KIF1B, KIT, KLLN, KRAS, LAPTM5, LIG4, LZTR1, MAD2L2, MAGT1, MAP2K1, MAP2K2, MAP3K1, MAX, MEN1, MET, MITF, MLH1, MLH3, MMP1, MNX1, MRE11, MSH2, MSH3, MSH6, MSR1, MTAP, MUTYH, NBN, NF1, NF2, NHP2, NME1, NOP10, NRAS, NSD1, NTHL1, NTRK1, PALB2, PARN, PAX5, PBRM1, PDGFB, PDGFRA, PDGFRB, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POLH, POT1, PRF1, PRKAR1A, PSMC3IP, PTCH1, PTCH2, PTEN, PTPN11, RAD50, RAD51, RAD51C |
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Ataxias |
Painel por Sequenciamento de Próxima Geração |
ABHD12, ACO2, AFG3L2, ANO10, APOB, APTX, ATCAY, ATM, ATP8A2, BEAN1, CACNA1A, CACNA1G, CACNB4, CCDC88C, CLCN2, CLN5, COQ2, COQ8A, CYP27A1, DNMT1, ELOVL4, FGF14, FLVCR1, FXN, GOSR2, GRM1, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, LAMA1, MRE11, MTTP, NOP56, NPC1, NPC2, PDSS1, PDSS2, PDYN, PEX7, PHYH, PMPCA, PNKP, PNPLA6, POLG, PRKCG, PTF1A, RUBCN, SACS, SCN2A, SETX, SIL1, SLC1A3, SPG7, SPTBN2, SYNE1, SYT14, TDP1, TGM6, TPP1, TTBK2, TTPA, TWNK, TXN2, VLDLR, WDR73, WFS1, WWOX |
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Câncer de Mama, Predisposição Hereditária |
Painel por Sequenciamento de Próxima Geração |
AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FAM175A, FANCC, MLH, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PIK3CA, PMS2, POLD, PTEN, RAD50, RAD51C, RAD51D, RINT1, SDHB, SDHD, SMARCA4, STK11, TP53, XRCC2 |
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Ciliopatias |
Painel por Sequenciamento de Próxima Geração |
ACVR2B, AHI1, ANKS6, ARL13B, ARL6, ARMC4, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C21orf59, C5orf42, CC2D2A, CCDC103, CCDC11, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFC1, CRELD1, CSPP1, DCDC2, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, DYNC2H1, DYX1C1, EVC, EVC2, FOXH1, GAS8, GDF1, GLIS2, IFT122, IFT140, IFT172, IFT80, INPP5E, INVS, IQCB1, KIAA0586, KIF7, LEFTY2, LRRC6, MCIDAS, MED13L, MEGF8, MKKS, MKS1, MMP21, MRE11, NEK1, NEK8, NKX25, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PDE6D, PKD1L1, PKD2, PKHD1, RPGR, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SDCCAG8, SHROOM3, SPAG1, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRIM32, TTC21B, TTC8, WDPCP, WDR19, WDR34, WDR35, WDR60, XPNPEP3, ZIC3, ZMYND10, ZNF423 |
