Super Painel para Epilepsia

Informações do catálogo

Dados técnicos de Super Painel para Epilepsia

Investigação genética de Epilepsia por Super Painel, com análise direcionada baseada em genoma completo.

Aplicações

Doenças raras e hereditárias

Amostras aceitas

Sangue periférico (preferencial), Swab bucal, DNA extraído

Prazo estimado

Tradicional · 30 dias corridos, contados após a aceitação da amostra.

Rápido · 15 dias corridos, contados após a aceitação da amostra.

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Escopo analítico

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Genes analisados

740 genes cadastrados no escopo estruturado do exame.

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AARS1, AARS2, ABAT, ACER3, ACOX1, ACTL6B, ACY1, ADAM22, ADAR, ADAT3, ADGRG1, ADGRV1, ADNP, ADPRS, ADRA2B, ADSL, AFF3, AFG2A, AGO1, AIMP1, AIMP2, AKT1, AKT3, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALPL, AMACR, AMPD2, AMT, ANKRD11, AP1G1, AP2M1, AP3B2, ARF1, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARID1B, ARSA, ARV1, ARX, ASAH1, ASH1L, ASNS, ASPA, ATAD1, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2B1, ATP5F1A, ATP6AP2, ATP6V0A2, ATP6V0C, ATP6V1A, ATP7A, ATP8A2, ATRX, BCKDHA, BCKDHB, BCKDK, BCORL1, BCS1L, BLTP1, BOLA3, BRAF, BRAT1, BSCL2, BTD, C12ORF57, C2ORF69, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA1I, CACNA2D2, CACNB4, CAD, CAMK2A, CAMK2B, CAMK2G, CARS2, CASK, CASR, CBL, CC2D2A, CCDC88A, CCDC88C, CCND2, CDK19, CDK5, CDK8, CDKL5, CERS1, CHD2, CHD5, CIC, CILK1, CLCN2, CLCN3, CLCN4, CLCN6, CLDN5, CLN3, CLN5, CLN6, CLN8, CLTC, CNKSR2, CNNM2, CNPY3, CNTN2, CNTNAP2, COG4, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COQ2, COQ4, COQ6, COQ9, COX10, COX15, CPA6, CPLX1, CREBBP, CRELD1, CRH, CRPPA, CSNK1G1, CSNK2A1, CSNK2B, CSTB, CTNNA2, CTNNB1, CTSD, CTSF, CUL4B, CUX2, CYFIP2, CYP27A1, D2HGDH, DBT, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHX30, DIAPH1, DLAT, DMBX1, DMXL2, DNAJC5, DNAJC6, DNM1, DNM1L, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPYD, DYNC1H1, DYRK1A, EARS2, ECHS1, EEF1A2, EFHC1, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EMC1, EML1, EMX2, EPG5, EPM2A, ETHE1, EXOSC3, EXT2, FAR1, FARS2, FASN, FASTKD2, FBXL4, FBXO11, FCSK, FDFT1, FGF12, FGF13, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXP1, FOXRED1, FRRS1L, FTL, FUCA1, FUT8, FZR1, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAL, GALC, GAMT, GATAD2B, GATM, GBA1, GCH1, GCSH, GFAP, GFM1, GLB1, GLDC, GLI3, GLRA1, GLRB, GLS, GLUD1, GLUL, GLYCTK, GM2A, GNAO1, GNAQ, GNB1, GNB5, GOSR2, GOT2, GPAA1, GPHN, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GSS, GTPBP2, GTPBP3, GUF1, H3-3A, H3-3B, HACE1, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC8, HECW2, HEPACAM, HEXA, HEXB, HLCS, HMGCL, HNRNPH2, HNRNPR, HNRNPU, HOXA1, HPRT1, HRAS, HSD17B4, HSPD1, HTRA2, IDH2, IDH3A, IER3IP1, IFIH1, IKBKG, INO80, IQSEC2, IRF2BPL, ITPA, JMJD1C, KANSL1, KARS1, KAT5, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNC2, KCND2, KCNH1, KCNH2, KCNH5, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD17, KCTD3, KCTD7, KDM5C, KIF1A, KIF2A, KIF5A, KIF5C, KIFBP, KMT2E, KMT5B, KPNA7, KPTN, KRAS, LAMB1, LAMC3, LARGE1, LGI1, LIAS, LIPT2, LMBRD2, LMNB2, LNPK, LSS, LYST, MACF1, MAF, MAGI2, MANBA, MAP2K1, MAP2K2, MAPK10, MAST1, MAST3, MATN4, MBD5, MBOAT7, MDH2, MECP2, MED12, MED17, MEF2C, MFF, MFSD8, MICAL1, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOCS3, MOGS, MPDU1, MTHFR, MTOR, MTR, NACC1, NAGA, NAGLU, NALCN, NARS1, NARS2, NBEA, NCDN, NDE1, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEUROD2, NEXMIF, NF1, NGLY1, NHLRC1, NHLRC2, NID1, NPC1, NPC2, NPRL2, NPRL3, NR4A2, NRAS, NRXN1, NSD1, NSDHL, NTRK2, NUBPL, NUS1, OCLN, OPHN1, OSGEP, OTUD6B, OTX2, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PARS2, PCCA, PCCB, PCDH12, PCDH19, PCDHB4, PCDHGC4, PCLO, PDE2A, PDHA1, PDHX, PDP1, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHACTR1, PHGDH, PIGA, PIGB, PIGC, PIGF, PIGG, PIGH, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGU, PIGV, PIGW, PIK3AP1, PIK3C2B, PIK3CA, PIK3R2, PLAA, PLCB1, PLPBP, PMM2, PNKD, PNKP, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMT1, POMT2, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM8, PRICKLE1, PRICKLE2, PRIMA1, PRMT7, PRODH, PRRT2, PSAP, PSAT1, PSMB8, PSPH, PTCH1, PTEN, PTF1A, PTPN23, PTS, PURA, QARS1, QDPR, RAB11A, RAB11B, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAC3, RAI1, RALA, RANBP2, RARS2, RBFOX1, RBFOX3, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF13, ROGDI, RORA, RORB, RPH3A, RPIA, RRM2B, RTN4IP1, RTTN, RUBCN, RUSC2, RYR2, RYR3, SAMHD1, SARS1, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDHA, SEC24D, SEPSECS, SERPINI1, SETBP1, SETD1B, SETD2, SETD5, SGCE, SGSH, SHH, SIK1, SIX3, SLC12A5, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A19, SLC25A22, SLC2A1, SLC32A1, SLC35A1, SLC35A2, SLC35A3, SLC45A1, SLC6A1, SLC6A19, SLC6A5, SLC6A8, SLC6A9, SLC9A6, SMARCA2, SMARCC2, SMC1A, SMS, SNAP25, SNIP1, SNX27, SPR, SPTAN1, SPTBN1, SRPX2, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STIL, STRADA, STX1B, STXBP1, STXBP2, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SZT2, TANGO2, TBC1D20, TBC1D24, TBCD, TBCK, TBL1XR1, TCEAL1, TCF4, TELO2, TFE3, TGIF1, TIAM1, TIMM50, TK2, TMEM70, TMTC3, TNK2, TNPO2, TPK1, TPP1, TRAF7, TRAK1, TRAPPC12, TRAPPC6B, TREX1, TRIM8, TRIO, TRIP13, TRPM3, TRPM6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TUBA1A, TUBA3E, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TXNRD1, UBA5, UBE2A, UBE3A, UBR7, UBTF, UFC1, UFM1, UNC79, UNC80, USP7, VAMP2, VARS1, VLDLR, VPS11, WARS2, WASF1, WDR37, WDR45, WDR45B, WDR62, WDR73, WWOX, YWHAG, ZBTB18, ZDHHC9, ZEB2, ZIC2, ZMIZ1, ZNF142, ZSWIM6

Solicitação médica

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