Neurologia
Painel de Epilepsias
Nesta análise, utilizando a técnica de NGS, realizamos o sequenciamento de DNA das regiões que codificam proteínas (éxons) e das regiões circundantes relevantes aos éxons (regiões flanqueadoras) dentro do gene. Adicionalmente, é possível identificar variações no número de cópias (CNV) em 801 genes associados à Epilepsias.
Genes Analisados
AARS ABAT ABCA2 ACOX1 ACTB ACTG1 ACTL6B ACY1 ADAM22 ADAR ADARB1 ADGRG1 ADNP ADPRHL2 ADSL AFF3 AGA AGMO AIMP1 AKT1 AKT3 ALDH3A2 ALDH5A1 ALDH7A1 ALG1 ALG11 ALG13 ALG14 ALG3 ALG6 ALG8 ALG9 ALKBH8 ALPL AMACR AMPD2 AMT ANK2 ANKRD11 ANKRD17 ANO4 AP1G1 AP2M1 AP3B2 AP4B1 APC2 ARF1 ARF3 ARFGEF1 ARFGEF2 ARG1 ARHGEF9 ARID1A ARID1B ARSA ARV1 ARX ASAH1 ASH1L ASNS ASPA ASPM ASTN1 ASXL3 ATAD1 ATN1 ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP2B1 ATP2B2 ATP5O ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V0C ATP6V1A ATP6V1B2 ATP7A ATRX B3GALNT2 BAP1 BCAS3 BCKDHA BCKDHB BCKDK BCS1L BOLA3 BPTF BRAF BRAT1 BSCL2 BSN BTD C12orf57 C2orf69 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1G CACNA1I CACNA2D1 CACNA2D2 CAD CAMK2A CAMK2B CAMSAP1 CAPRIN1 CARS2 CASK CC2D2A CCDC88A CCDC88C CDK13 CDK19 CDKL5 CELF2 CEP85L CERS1 CHD1 CHD2 CHD3 CHD4 CHD5 CHKA CHRNA2 CHRNA4 CHRNB2 CIC CLCN3 CLCN4 CLDN5 CLN3 CLN5 CLN6 CLN8 CLPB CLTC CNKSR2 CNNM2 CNOT9 CNPY3 CNTN2 CNTNAP2 COG7 COL18A1 COL3A1 COL4A1 COL4A2 COL4A3BP COQ2 COQ4 COQ8A COQ9 COX11 CPLX1 CPSF3 CPT1A CPT2 CRADD CREBBP CRELD1 CSF1R CSMD1 CSNK2A1 CSNK2B CSTB CTNNA2 CTSD CTSF CTU2 CUL4B CUX2 CWF19L1 CXorf56 CYFIP2 CYP27A1 D2HGDH DBT DCX DDC DDX3X DEAF1 DEGS1 DENND5A DEPDC5 DHCR24 DHDDS DHPS DHX16 DHX30 DIAPH1 DIP2C DLG4 DLL1 DMXL2 DNAJC5 DNM1 DNM1L DOCK7 DOHH DOLK DPAGT1 DPM1 DPYD DYNC1H1 DYRK1A EARS2 ECHS1 ECM1 EEF1A2 EEF1B2 EFTUD2 EHMT1 EIF2AK2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 EIF3F EIF4A2 ELOVL4 EMC1 EMC10 EML1 EPG5 EPM2A ESAM ETHE1 EXOC7 EXOSC3 EXT2 FA2H FARS2 FASTKD2 FBXL4 FBXO11 FBXO28 FDFT1 FGF12 FGF13 FGFR1 FGFR3 FH FKTN FLNA FOLR1 FOXG1 FOXP1 FOXRED1 FRMD5 FRRS1L FUCA1 FUK FUT8 FZR1 GABBR2 GABRA1 GABRA2 GABRA3 GABRA4 GABRA5 GABRB1 GABRB2 GABRB3 GABRD GABRG2 GAD1 GALC GALNT2 GAMT GBA GCDH GCH1 GCSH GFAP GFM1 GLB1 GLDC GLI3 GLRA2 GLS GLUD1 GLUL GLYCTK GM2A GMPPB GNAI1 GNAO1 GNAQ GNB1 GNB5 GOSR2 GOT2 GPAA1 GPHN GPRC5B GPT2 GRIA2 GRIA3 GRIA4 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRM7 GRN GSS GTPBP2 GTPBP3 H3F3A H3F3B HACE1 HAX1 HCFC1 HCN1 HCN2 HDAC3 HECW2 HEPACAM HERC2 HEXA HEXB HID1 HIVEP2 HLCS HMGCL HNRNPH2 HNRNPR HNRNPU HPDL HRAS HSD17B4 HSPD1 HTRA2 IDH2 IER3IP1 IFIH1 IKBKG IQSEC2 IRF2BPL ISCA1 ISPD ITPA KANSL1 KARS KAT5 KAT6A KAT8 KATNB1 KCNA1 KCNA2 KCNA3 KCNB1 KCNC1 KCNC2 KCND1 KCND2 KCND3 KCNH1 KCNH5 KCNJ10 KCNJ11 KCNK4 KCNMA1 KCNN2 KCNQ2 KCNQ3 KCNQ5 KCNT1 KCNT2 KCTD3 KCTD7 KDM4B KDM5C KIAA1109 KIF1A KIF2A KIF5A KIF5C KLHL20 KMT2A KMT2D KMT2E KPTN KRAS KRIT1 L2HGDH LAMA2 LAMC3 LARS LETM1 LGI1 LIAS LIG3 LIPT2 LMBRD2 LNPK LSS MACF1 MADD MAF MAP1B MAP2K1 MAP2K2 MAST1 MAST3 MAST4 MBD5 MBOAT7 MDH2 MECP2 MED11 MED12 MED13L MED17 MED27 MEF2C MFF MFSD8 MINPP1 MLC1 MMACHC MMADHC MOCS1 MOCS2 MOGS MPDU1 MTHFR MTHFS MTOR MTR MYCBP2 MYT1L NAA10 NACC1 NAGLU NALCN NAPB NARS NARS2 NBEA NCDN NDE1 NDST1 NDUFA1 NDUFAF2 NDUFAF5 NDUFS4 NDUFS8 NDUFV1 NEDD4L NEU1 NEUROD2 NEXMIF NGLY1 NHLRC1 NOTCH3 NOVA2 NPRL2 NPRL3 NR2F1 NR4A2 NRROS NRXN1 NSD1 NSDHL NSRP1 NTRK2 NUP214 NUS1 OCLN OGDHL OPHN1 OSGEP OTUD6B OXR1 P4HTM PABPC1 PACS1 PACS2 PAFAH1B1 PAH PAK1 PARP6 PARS2 PCCA PCCB PCDH12 PCDH19 PCDHGC4 PCYT2 PDCD10 PDE2A PDHA1 PDHX PET100 PEX1 PEX10 PEX12 PEX13 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP3 PGM2L1 PHACTR1 PHF6 PHGDH PI4K2A PIDD1 PIGA PIGB PIGC PIGG PIGH PIGK PIGN PIGO PIGP PIGQ PIGS PIGT PIGU PIGV PIGW PIK3CA PIK3R2 PIP5K1C PLA2G6 PLAA PLCB1 PLK1 PLP1 PLPBP PLXNA1 PMM2 PMPCB PNKP PNPO PNPT1 POGZ POLG POLR3B POMGNT1 POMT1 PPFIA3 PPFIBP1 PPIL1 PPP1R3F PPP2CA PPP2R1A PPP2R5D PPP3CA PPT1 PRMT7 PRODH PRPF8 PRRT2 PRUNE1 PSAP PTEN PTPN23 PTS PUM1 PURA PUS3 QARS QDPR RAB11B RAB18 RAB39B RAB5C RAC3 RAI1 RALA RALGAPA1 RANBP2 RARS RARS2 RBFOX1 RELN RERE RFT1 RHOBTB2 RMND1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF13 RNH1 RNU4ATAC ROGDI RORA RORB RPH3A RPS6KA3 RRM2B RTN4IP1 RTTN SAMHD1 SART3 SATB1 SATB2 SCAF4 SCAMP5 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCO2 SEMA6B SEPSECS SERAC1 SERPINI1 SETBP1 SETD1A SETD1B SETD5 SGCE SGSH SHANK3 SHH SHROOM4 SIK1 SLC12A5 SLC13A3 SLC13A5 SLC16A2 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC25A1 SLC25A12 SLC25A22 SLC2A1 SLC32A1 SLC35A2 SLC38A3 SLC39A8 SLC46A1 SLC5A6 SLC6A1 SLC6A19 SLC6A8 SLC9A6 SLITRK2 SMARCA2 SMARCB1 SMARCC2 SMC1A SMS SNAP25 SNAP29 SNF8 SNORD118 SNX27 SON SP9 SPATA5 SPATA5L1 SPR SPTAN1 SPTBN1 SPTBN4 SRCAP ST3GAL5 STAG1 STAMBP STRADA STX1A STX1B STXBP1 SUCLA2 SUOX SURF1 SYN1 SYNGAP1 SYNJ1 SZT2 TAF8 TANC2 TANGO2 TARS2 TBC1D24 TBC1D2B TBCD TBCK TBL1XR1 TBX19 TCF4 TDP2 TEFM TET3 TFE3 TIAM1 TIMM50 TK2 TMEM163 TMEM222 TMEM63B TMTC3 TMX2 TNPO2 TPK1 TPP1 TRA2B TRAK1 TRAPPC10 TRAPPC12 TRAPPC4 TRAPPC6B TREM2 TREX1 TRIM8 TRIO TRIT1 TRMT1 TRMT10A TRPM3 TRPM6 TRRAP TSC1 TSC2 TSEN2 TSEN54 TSFM TSPYL1 TUBA1A TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBG1 TUBGCP2 TUBGCP6 TWNK U2AF2 UBA5 UBAP2L UBE2A UBE3A UBR7 UFM1 UFSP2 UGDH UGP2 UMPS UNC13A UNC79 UNC80 USP18 USP25 VAMP2 VARS VARS2 VPS11 VPS13A VPS4A VPS50 WAC WARS2 WASF1 WDR26 WDR37 WDR45 WDR45B WDR62 WDR73 WNK3 WWOX YIPF5 YWHAG ZBTB18 ZBTB47 ZDHHC9 ZEB2 ZFHX3 ZMYND11 ZMYND8 ZNF142 ZNF335 ZNF526 ZNHIT3 ZSWIM6
Preparo para coleta:
Realizar a higiene bucal e coletar após 30 minutos de jejum.
Instruções de coleta:
* Higienize as mãos;
* Retire cuidadosamente o swab coletor da embalagem;
* Certifique-se de que a ponta do swab não entre em contato com nenhuma superfície
* Inserir o Swab na parte interna da bochecha e esfregue com movimentos para cima e para baixo, aproximadamente 10x de cada lado das bochechas;
Evite tocar os dentes e língua.
* Coloque o swab dentro do tubo e feche bem a tampa;
* Coloque o tubo de coleta na embalagem plástica e guarde-o na caixa junto com a ficha de registro;
* Lacrar a caixa!
