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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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Epilepsia, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
CACNA1A, CASR, GABRD, ASAH1, KCNMA1, ME2, PRICKLE2, SLC4A10, SMC1A, SPR, ST3GAL3, ST3GAL5, SUOX, UBR5, WFS1, ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP1A2, CACNA2D2, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DEPDC5, DNAJC5, DYNC1H1, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, KANSL1, KCNH2, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, LIAS, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, QARS, RBFOX1, ROGDI, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SPTAN1, STXBP1, SYN1, SYNGAP1, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBE3A, ZEB2, WWOX, NPR2L, STX1B, CNTN2, CACNB4, CACNA1H, CLCN2, ADRA2B, SNIP1, CPA6, IER3IP1, STRADA, SLC6A1, LNPK, ICK, TRAPPC6B, NACC1, PROSC, NPRL3, PRDM8, SLC12A5, LMNB2, SPATA5, RELN, GAL, CERS1, KCNC1, SRPX2, CRH, NPRL2 |
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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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Encefalopatias (Mitocondrial/Epiléptico) |
Painel por Sequenciamento de Próxima Geração |
AARS2, ABCB7, ABCD1, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACOX1, ACTG2, ADAR, ADCK3, ADCK4, AFG3L2, AGK, AGL, AGRN, AIFM1, AIMP1, ALAS2, ALDH3A2, ALDH7A1, ALG14, ALG2, AMACR, ANO10, APOPT1, APTX, ARG1, ARHGEF15, ARHGEF9, ARSA, ARX, ASAH1, ASPA, ATP13A2, ATP1A2, ATP1A3, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCS1L, BOLA3, C10ORF2, C12ORF65, C19ORF12, CACNA1A, CACNA1H, CACNB4, CAD, CARS2, CASR, CCDC115, CDKL5, CHAT, CHCHD10, CHD2, CHD8, CHKB, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CLCN4, CLN3, CLN5, CLN6, CLP1, CLPB, CLPP, COL4A1, COL4A2, COLQ, COQ2, COQ4, COQ6, COQ7, COQ9, COX10, COX14, COX15, COX4I2, COX6B1, COX8A, CP, CPT1A, CPT2, CSF1R, CSTB, CYP27A1, DARS2, DCAF17, DEPDC5, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNAJC3, DNM2, DOCK7, DOK7, DPAGT1, DPM2, DYRK1A, EARS2, ECHS1, EEF1A2, EFHC1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPG5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXOSC8, FA2H, FAM126A, FARS2, FASTKD2, FBXL4, FDX2, FLAD1, FOLR1, FOXG1, FOXRED1, FTL, FUCA1, GABRA1, GABRD, GABRG2, GALC, GAMT |
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Encefalopatia Epiléptica Infantil Precoce, Autossômica Dominante, Ligado ao X |
Painel por Sequenciamento de Próxima Geração |
ARHGEF9, ARX, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, DEPDC5, FOXG1, GABRA1, GABRB3, GABRG2, GNAO1, GRIN2A, HCN1, KCNA2, KCNB1, KCNQ2, KCNQ3, KCNT1, LGI1, MBD5, MECP2, MEF2C, NPRL2, PCDH19, PRRT2, RELN, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC35A2, SLC9A6, SPTAN1, STX1B, STXBP1 |
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Câncer, Predisposição Hereditária |
Painel por Sequenciamento de Próxima Geração |
ABCB1, ABCC2, ABCC4, ABCG2, ABL1, ABL2, ACVR1, ACVR1B, AKT1, AKT2, AKT3, ALK, ALOX12B, AMER1, ANKRD26, APC, AR, ARAF, ARFRP1, ARID1A, ARID1B, ARID2, ASXL1, ASXL2, ATM, ATR, ATRX, AURKA, AURKB, AXIN1, AXL, B2M, BAP1, BARD1, BCL10, BCL2, BCL2L1, BCL2L11, BCL2L2, BCL6, BCOR, BCORL1, BLM, BRAF, BRCA1, BRCA2, BRD3, BRD4, BRIP1, BTG1, BTG2, BTK, C11ORF30, CALR, CARD11, CASP8, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CD22, CD274, CD70, CD79A, CD79B, CDC73, CDH1, CDK12, CDK4, CDK6, CDK8, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CHD2, CHD4, CHEK1, CHEK2, CIC, CREBBP, CRKL, CRLF2, CSF1R, CSF3R, CTCF, CTLA4, CTNNA1, CTNNB1, CUL3, CUL4A, CUX1, CXCR4, CYLD, CYP17A1, DAXX, DDR1, DDR2, DDX41, DICER1, DIS3, DNMT3A, DNMT3B, DOT1L, EED, EGFR, EIF1AX, EIF4A2, ELANE, EP300, EPCAM, EPHA3, EPHA5, EPHA7, EPHB1, EPHB4, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERG, ERRFI1, ESR1, ETNK1, ETV1, ETV6, EZH2, FAM175A, FAM46C, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FAT1, FBXW7, FGF10, FGF12 |
