Encefalo-NGS

Doenças cerebrovasculares - sequenciamento - 479 genes

Painel ampliado para a investigação de genes previamente associados a encefalopatias epiléticas, epilesia focal familial, epilepsia generalizada, síndromes de dor, canalopatias cerebrais, síndrome de Rett, síndrome de Dravet, CADASIL, CARASIL, entre outras. Inclui a análise de DNA mitocondrial.

AARS, ABAT, ABCC6, ACOX1, ACTA2, ACTL6B, ACVRL1, ADAM22, ADAR, ADCY5, ADSL, AIMP1, AKT1, AKT3, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG13, ALG3, ALG6, ALG8, ALG9, ALPL, AMPD2, AMT, AP3B2, APP, ARFGEF2, ARG1, ARHGEF9, ARID1B, ARV1, ARX, ASPA, ATL1, ATL3, ATN1, ATP1A1, ATP1A2, ATP1A3, ATP2A1, ATP6V0A2, ATP6V1A, ATP7A, ATP7B, ATR, ATRX, B3GLCT, BCKDHA, BCKDHB, BCS1L, BOLA3, BRAF, BRAT1, BSCL2, BTD, C12orf57, CACNA1A, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA1S, CACNB4, CAD, CASK, CASR, CC2D2A, CCM2, CDK19, CDKL5, CEP152, CHD2, CHRNA2, CHRNA4, CHRNB2, CIC, CLCN1, CLCN2, CLCN4, CLN3, CLN8, CNKSR2, CNNM2, CNPY3, CNTNAP2, COG7, COL18A1, COL3A1, COL4A1, COL4A2, COQ2, COQ4, COQ8A, COQ8B, COQ9, CPA6, CPLX1, CREBBP, CSTB, CTSA, CTSD, CUX2, CYFIP2, D2HGDH, DALRD3, DCX, DDX3X, DEAF1, DENND5A, DEPDC5, DHCR7, DHDDS, DIAPH1, DMXL2, DNAJC5, DNM1, DNM1L, DOCK7, DPAGT1, DPM1, DPYD, DYNC1H1, DYRK1A, EARS2, EEF1A2, EFTUD2, EHMT1, EIF2B2, EIF2B4, EIF2B5, EIF2S3, ELN, ELP1, EML1, EMX2, ENG, EPG5, EPM2A, ETHE1, EXOSC3, FAR1, FARS2, FBXL4, FBXO11, FGF12, FGF13, FGFR3, FH, FKTN, FLNA, FLVCR2, FOLR1, FOXC1, FOXG1, FRRS1L, FUCA1, FUT8, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GAMT, GBA, GCH1, GFAP, GFM1, GLA, GLB1, GLDC, GLRA1, GLRB, GLS, GLUD1, GLUL, GLYCTK, GM2A, GNAO1, GNAQ, GNB5, GOSR2, GOT2, GPHN, GRIN1, GRIN2A, GRIN2B, GRIN2D, GSS, GUCY1A3, GUF1, HACE1, HAX1, HBB, HCFC1, HCN1, HCN2, HEPACAM, HEXA, HLCS, HMGCL, HNRNPU, HRAS, HSD17B4, HTRA1, HTRA2, IDH2, IER3IP1, IFIH1, IKBKG, IQSEC2, ITPA, JAG1, KARS, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ10, KCNJ11, KCNJ2, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KIF1A, KIF2A, KIF5C, KRAS, KRIT1, LAMB1, LARGE1, LGI1, LIAS, LYST, MACF1, MAF, MAGI2, MAP2K1, MAP2K2, MBD5, MBOAT7, MDH1, MDH2, MECP2, MED12, MEF2C, MFF, MFSD8, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MTHFR, MTOR, MTR, NAGA, NARS2, NDE1, NDUFA1, NDUFA10, NDUFAF2, NDUFAF5, NDUFS4, NDUFS8, NDUFV1, NECAP1, NEUROD2, NF1, NGF, NGLY1, NHLRC1, NOTCH3, NPRL2, NPRL3, NRXN1, NSD1, NSDHL, NSF, NTRK1, NTRK2, OCLN, OPHN1, PACS1, PACS2, PAFAH1B1, PAH, PARS2, PCCA, PCCB, PCDH19, PCNT, PDCD10, PDHA1, PDHX, PET100, PEX1, PEX10, PEX12, PEX13, PEX19, PEX2, PEX3, PEX6, PEX7, PHACTR1, PHGDH, PIGA, PIGB, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGW, PIK3CA, PIK3R2, PKD1, PKD2, PLCB1, PMM2, PNKD, PNKP, PNPO, POLG, POMGNT1, POMGNT2, POMT1, PPP3CA, PPT1, PRDM12, PRICKLE1, PRMT7, PRNP, PRODH, PRRT2, PSAP, PTEN, PTPN23, PTS, PURA, PYGM, QARS, QDPR, RAB18, RAB7A, RANBP2, RARS2, RASA1, RELN, RETREG1, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF13, ROGDI, RORA, RORB, RTTN, RYR1, SAMHD1, SCARB2, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SEPSECS, SEPT9, SERPINI1, SETBP1, SETD5, SIK1, SLC12A5, SLC13A5, SLC16A2, SLC1A2, SLC1A3, SLC25A1, SLC25A12, SLC25A22, SLC2A1, SLC2A10, SLC35A2, SLC6A1, SLC6A19, SLC6A5, SLC6A8, SLC9A6, SMAD3, SMAD4, SMARCA2, SMARCC2, SMC1A, SMS, SPR, SPTAN1, SPTLC1, SPTLC2, ST3GAL3, ST3GAL5, STAG1, STAMBP, STRADA, STX1B, STXBP1, SUCLA2, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBCK, TBL1XR1, TCF4, TGFB2, TGFBR1, TGFBR2, TMEM70, TPP1, TRAK1, TREX1, TRPA1, TRPM6, TSC1, TSC2, TSEN2, TSEN54, TTR, TUBA1A, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TWNK, UBA5, UBE2A, UBE3A, UGDH, UGP2, UNC80, VARS2, WDR45, WDR45B, WDR62, WDR73, WNK1, WWOX, YWHAG, ZBTB18, ZEB2

40503801

40 a 60 dias úteis

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