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Doenças Autossômicas Recessivas, Painel para Compatibilidade Genética para Casais |
Painel por Sequenciamento de Próxima Geração + Análise de Deleção/Duplicação |
ABCB11, ABCC8, ABCD1, ACAD9, ACADM, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADAMTS2, ADGRG1, AGA, AGL, AGPS, AGXT, AIRE, ALDH3A2, ALDOB, ALG6, ALMS1, ALPL, AMT, AQP2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASS1, ATM, ATP6V1B1, ATP7A, ATP7B, ATRX, BBS1, BBS10, BBS12, BBS2, BCKDHA, BCKDHB, BCS1L, BLM, BSND, CAPN3, CBS, CDH23, CEP290, CERKL, CFTR, CHM, CHRNE, CIITA, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGB3, COL27A1, COL4A3, COL4A4, COL4A5, COL7A1, CPS1, CPT1A, CPT2, CRB1, CTNS, CTSK, CYBA, CYBB, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP27A1, DBT, DCLRE1C, DHCR7, DHDDS, DLD, DMD, DNAH5, DNAI1, DNAI2, DYSF, EDA, EIF2B5, ELP1, EMD, ERCC6, ERCC8, ESCO2, ETFA, ETFDH, ETHE1, EVC, EVC2, EYS, F9, FAH, FAM161A, FANCA, FANCC, FANCG, FH, FKRP, FKTN, FMR1, G6PC, GAA, GALC, GALK1, GALT, GAMT, GBA, GBE1, GCDH, GFM1, GJB1, GJB2, GLA, GLB1, GLDC, GLE1, GNE, GNPTAB, GNPTG, GNS, GRHPR, HADHA, HAX1, HBA1, HBA2, HBB, HEXA, HEXB, HGSNAT, HJV, HLCS, HMGCL, HOGA1, HPS1, HPS3, HSD17B4, HSD3B2, HYAL1, HYLS1, IDS, IDUA, IL2RG, IVD, KCNJ11, LAMA2, LAMA3 |
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CAKUT |
Painel por Sequenciamento de Próxima Geração |
ACE, AGT, AGTR1, ANOS1, ATRX, BMP4, CBP, CHD1L, CHD7, DHCR7, DSTYK, EP300, ESCO2, EVC, EVC2, EYA1, FGF20, FRAS1, FREM1, FREM2, GATA3, GLI3, GPC-3, GREB1L, HNF1B, HNF1, HSPG2, ITGA8, JAG1, KAL1, KAL2, KIF14, MKS1, MKS4, MUC1, NIPBL, NRIP1, NS1, PAX2, PBX1, PEX, REN, RET, ROBO2, SALL1, SALL4, SIX1, SIX2, SIX5, SOX17, TBX18, TNXB, TRAP1, UMOD, UPK3A, VANGL1, WNT4, WT1 |
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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 |
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Rett/ Rett Atípica, Síndrome, Painel sem MECP2, Expandido |
Painel por Sequenciamento de Próxima Geração |
ARX, ATRX, CDKL5, CNTNAP2, CTNNB1, EHMT1, FOLR1, FOXG1, MBD5, MEF2C, NRXN1, OPHN1, PCDH19, PNKP, PQBP1, SLC2A1, SLC9A6, TCF4, UBE3A, ZEB2 |
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Rett Típica e Atípica, Sìndrome, Painel Expandido com MECP2 |
Painel por Sequenciamento de Próxima Geração |
ARX, ATRX, CDKL5, CNTNAP2, CTNNB1, EHMT1, FOLR1, FOXG1, MBD5, MECP2, MEF2C, NRXN1, OPHN1, PCDH19, PNKP, PQBP1, SLC2A1, SLC9A6, TCF4, UBE3A, ZEB2 |
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Rett/Angelman, Síndromes |
Painel por Sequenciamento de Próxima Geração |
ARX, ATRX, CDKL5, CNTNAP2, DYRK1A, EHMT1, FOXG1, IQSEC2, MBD5, MECP2, MEF2C, NRXN1, PCDH19, PNKP, SATB2, SHANK3, SLC2A1, SLC9A6, STXBP1, TCF4, UBE3A, ZEB2 |
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Painel para Detecção de Portadores Assintomáticos de Doenças Genéticas Frequentes em Judeus |
Painel por Sequenciamento de Próxima Geração |
ABCB11, ABCC8, ABCD1, ACAD9, ACADM, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADAMTS2, ADGRG1, AGA, AGL, AGPS, AGXT, AIRE, ALDH3A2, ALDOB, ALG6, ALMS1, ALPL, AMT, AQP2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASS1, ATM, ATP6V1B1, ATP7A, ATP7B, ATRX, BBS1, BBS10, BBS12, BBS2, BCKDHA, BCKDHB, BCS1L, BLM, BSND, CAPN3, CBS, CDH23, CEP290, CERKL, CFTR, CHM, CHRNE, CIITA, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGB3, COL27A1, COL4A3, COL4A4, COL4A5, COL7A1, CPS1, CPT1A, CPT2, CRB1, CTNS, CTSK, CYBA, CYBB, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP27A1, DBT, DCLRE1C, DHCR7, DHDDS, DLD, DMD, DNAH5, DNAI1, DNAI2, DYSF, EDA, EIF2B5, ELP1, EMD, ERCC6, ERCC8, ESCO2, ETFA, ETFDH, ETHE1, EVC, EVC2, EYS, F9, FAH, FAM161A, FANCA, FANCC, FANCG, FH, FKRP, FKTN, FMR1, G6PC, GAA, GALC, GALK1, GALT, GAMT, GBA, GBE1, GCDH, GFM1, GJB1, GJB2, GLA, GLB1, GLDC, GLE1, GNE, GNPTAB, GNPTG, GNS, GRHPR, HADHA, HAX1, HBA1, HBA2, HBB, HEXA, HEXB, HGSNAT, HJV, HLCS, HMGCL, HOGA1, HPS1, HPS3, HSD17B4, HSD3B2, HYAL1, HYLS1, IDS, IDUA, IL2RG, IVD, KCNJ11, LAMA2, LAMA3 |
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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 |
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Autismo |
Painel por Sequenciamento de Próxima Geração |
ANKRD11, AP1S2, ARX, ATRX, AUTS2, AVPR1A, BDNF, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CNTNAP5, CREBBP, DHCR7, DLGAP2, DMD, DOCK4, DPP10, DPP6, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, GABRG1, GNA14, GRIN2B, GRPR, HOXA1, HPRT1, IMMP2L, KATNAL2, KCTD13, KDM5C, KIRREL3, KLHL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MET, MID1, NEGR1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PCDH9, PDE10A, PHF6, PIP5K1B, PNKP, PON3, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAI1, RBFOX1, RELN, RPL10, SATB2, SCN1A, SCN2A, SHANK2, SHANK3, SLC6A4, SLC9A6, SLC9A9, SMC1A, SMG6, SNRPN, SOX5, SPAST, ST7, STK3, TCF4, TSC1, TSC2, UBE3A, VPS13B, ZEB2, ZNF507, ZNF804A, ZNHIT6 |
