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Autismo |
Painel por Sequenciamento de Próxima Geração |
ADNP, ANKRD11, ARID1B, ASH1L, AUTS2, CAMK2A, CHD2, CHD8, DDX3X, DYRK1A, EHMT1, FOXP1, GRIA1, GRIN2B, HNRNPH2, KMT2A, KMT2C, KMT5B, MBD5, MECP2, MED12, NAA15, NEXMIF, NLGN3, NLGN4X, PACS1, POGZ, PPM1D, PTCHD1, PTEN, RPL10, SCN2A, SETD2, SHANK1, SHANK2, SHANK3, SYN1, SYNGAP1, TBL1XR1, TBR1, TRIO, TRIP12, UBE3A |
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Síndromes Clinicamente Reconheciveis |
Painel por Sequenciamento de Próxima Geração |
ALMS1, ANKRD11, ARHGAP31, ARID1B, ARL6, ATR, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BLM, BRAF, CBL, CDC6, CDT1, CENPJ, CEP152, CEP290, CEP63, CREBBP, DHCR7, DOCK6, EDN3, EDNRB, ELP4, EP300, ERCC8, EYA1, EZH2, FBN2, FGD1, FOXL2, GATA3, GCM2, GLE1, GNAS, GPC3, GPR143, HDAC8, HRAS, IRF6, JAG1, KDM6A, KIF1BP, KMT2A, KMT2D, KRAS, LMNA, LMX1B, LZTFL1, MAP2K1, MAP2K2, MID1, MITF, MKKS, MKS1, MYBPC1, MYH3, MYH8, NF1, NFIX, NIPBL, NOTCH1, NOTCH2, NRAS, NRXN1, NSD1, OCA2, OFD1, ORC1, ORC4, ORC6, PAX3, PAX6, PHF6, PIEZO2, POLR1C, POLR1D, PTH, PTPN11, RAD21, RAF1, RASA1, RBBP8, RECQL4, ROR2, RPS6KA3, SALL1, SDCCAG8, SHOC2, SIX5, SKI, SLC45A2, SMAD3, SMC1A, SMC3, SNAI2, SOS1, SOX10, SPECC1L, SPRED1, SRCAP, STX16, TBCE, TBX5, TCF4, TCOF1, TFAP2A, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM67, TNNI2, TNNT3, TP63, TRIM32, TTC8, TYR, TYRP1, VIPAS39, VPS13B, VPS33B, WDPCP, WNT5A, WRN, ZEB2 |
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Síndrome de Coffin-Siris |
Painel por Sequenciamento de Próxima Geração |
ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 |
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Síndrome de Coffin-Siris Associada ao Gene ARID1B |
Sequenciamento Completo do Gene |
ARID1B |
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Angelman, Síndrome, Diagnósticos Diferenciais |
Painel por Sequenciamento de Próxima Geração |
ARID1B, ARX, ATRX, CDKL5, CNTNAP2, DDX3X, DYRK1A, EHMT1, FOXG1, HERC2, KDM5C, KIAA2022, MBD5, MECP2, MEF2C, NRXN1, PDHA1, SLC6A8, SLC9A6, SYNGAP1, TCF4, UBE3A, ZEB2 |
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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 |
