PE522 - PAINEL MOLECULAR EXPANDIDO PARA EPILEPSIA - 552 GENES + MTDNA

---

Sinônimos:

PAINEL MOLECULAR EXPANDIDO PARA EPILEPSIA - 552 GENES + MTDNA

Material:

SANGUE TOTAL COM EDTA

Preparo:

Jejum Não é necessário. A interpretação do exame é direcionada pelo quadro clínico e desta forma, é essencial uma informação clínica detalhada. Apresentar pedido médico. Neste painel é realizado o sequenciamento completo de 552 genes associados a quadros de epilepsia, tais como síndrome de Dravet, esclerose tuberosa, dentre outras doenças. Genes Analisados: AARS; ABAT; ABCC8; ABCD1; ACADM; ACADS; ACADSB; ACO2; ACOX1; ACSF3; ACTB; ACTG1; ACVRL1; ACY1; ADAMTSL2; ADCK3; ADD3; ADK; ADNP;ADSL; AFG3L2; AGA; AIFM1; AIMP1; AKT2; AKT3; ALDH3A2; ALDH5A1; ALDH7A1; ALDOB; ALG1; ALG11; ALG12; ALG13; ALG2; ALG3; ALG6; AMACR; AMPD2; AMT; AP1S2; AP3B2; AP3D1; AP4B1; AP4E1; AP4M1; APOPT1; ARCN1; ARFGEF2; ARG1; ARHGEF9; ARSA; ARX; ASAH1; ASL; ASNS; ASPA; ASPM; ASS1; ASXL2; ATIC; ATM; ATP13A2; ATP1A2; ATP1A3; ATP2A2; ATP5A1; ATP6AP2; ATP6V0A2; ATP7A; ATRX; AUTS2; BCKDHA; BCKDHB; BCL11B; BCS1L; BOLA3; BSCL2; BTD; C10ORF2; C12ORF57; CACNA1A; CACNA1G; CACNA1H; CACNA2D2; CACNB4; CAD; CARS2; CASK; CASQ2; CASR; CBS; CCDC88A; CCDC88C; CCM2; CDKL5; CECR1; CENPJ; CERS1; CHD2; CHRNA2; CHRNA4; CHRNB2; CIT; CLCN2; CLCN4; CLCNKA; CLCNKB; CLIC2; CLN3; CLN5; CLN6; CLN8; CLP1; CNKSR2; CNTNAP2; COG6; COG7; COG8; COL4A1; COL6A2; COQ2; COQ4; COQ9; COX10; COX14; COX15; COX20; COX6B1; COX8A; CPA6; CPS1; CPT1A;CPT2;CREBBP; CSTB; CTSA; CTSD; CTSF; CUL4B; CYP27A1; D2HGDH; DBT; DCX; DDC; DENND5A; DEPDC5; DGUOK; DHCR24; DHCR7; DHFR; DLD; DNAJC5; DNM1; DNM1L; DOCK7; DPAGT1; DPM1; DPM2; DPYD; DPYS; DYNC1H1; DYRK1A; EARS2; EBP; EEF1A2; EFHC1; EHMT1; EIF2B1; EIF2B2; EIF2B3; EIF2B4; EIF2B5; ELOVL4; ENG; EPM2A; ERCC6; ERCC8; ETHE1; EXT2; FA2H; FAM111A; FARS2; FASTKD2; FBP1; FBXL4; FGD1; FGF12; FH; FKRP; FKTN; FLNA; FOLR1; FOXG1;FOXRED1; FRMPD4; FRRS1L; FTL; FUCA1; GABRA1; GABRB3; GABRD; GABRG2; GAL; GALC; GAMT; GATM; GBA; GCDH; GCH1; GCK; GCSH; GFAP; GFM1; GJA1; GJC2; GK; GLA; GLB1; GLDC; GLI2; GLRA1; GLUD1; GLUL; GM2A; GNAO1; GNAQ; GNE; GNS; GOSR2; GPC3; GPHN; GPR56; GPR98; GRIA3; GRIN1; GRIN2A; GRIN2B; GRIN2D; GRN; GSS; GUF1; GYS2; HADH; HCCS; HCFC1; HCN1; HCN4; HECW2; HEPACAM; HEXA; HGSNAT; HLCS; HMBS; HNRNPH2; HPD; HRAS; HSD17B10; HSD17B4; HSPD1; IBA57; IDS; IER3IP1; IQSEC2; ITPA; KANSL1; KCNA1; KCNB1; KCNC1; KCNH2; KCNJ1; KCNJ11; KCNMA1; KCNQ2; KCNQ3; KCNT1; KCTD7; KDM5C; KDM6A; KIAA2022; KIF2A; KIF7; KMT2D; KRAS; L1CAM; L2HGDH; LAMA2; LAMB1; LAMC3; LARGE; LARS2; LGI1; LIAS; LYST; MAGI2; MANBA; MBD5; MBOAT7; MBTPS2; MCCC1; MCPH1; MECP2; MED12; MEF2C; MFSD2A; MFSD8; MGAT2; MLC1; MLYCD; MMAA; MMACHC; MMADHC; MOCS1; MOCS2; MOGS; MPDZ; MRPS22; MTHFR; MTR; MTRR; MYH3; NAA10; NAGA; NAGLU; NAGS; NANS; NAXE; NDUFA1; NDUFA10; NDUFA11; NDUFA12; NDUFA2; NDUFA9; NDUFAF1; NDUFAF2; NDUFAF3; NDUFAF4; NDUFB11; NDUFB3; NDUFB9; NDUFS1; NDUFS2; NDUFS3; NDUFS4; NDUFS6; NDUFS7; NDUFS8; NDUFV1; NDUFV2; NECAP1; NEU1; NGLY1; NHLRC1; NIPBL; NLGN4X; NOL3; NOTCH3; NPC1; NPC2; NPRL2; NPRL3; NRAS; NRXN1; NSD1; NSDHL; NUBPL; OCLN; OCRL; OFD1; OMG; OPHN1; OTC; PACS1; PAFAH1B1; PAH; PAK3; PANK2; PAX6; PC; PCDH19; PDCD10; PDHA1; PDHX; PDP1; PDSS2; PEX1; PEX2; PEX5; PEX7; PGAP3; PGBD3; PGK1; PHF6; PHGDH; PIGA; PIGL; PIGM; PIGN; PIGO; PIGT; PIGV; PIGY; PIK3CA; PIK3R2; PLA2G6; PLCB1; PLEKHG2; PLP1; PMM2; PNKD; PNKP; PNPO; POLG; POLG2; POMGNT1; POMT1; POMT2; PPT1; PQBP1; PRICKLE1; PRICKLE2; PRMT7; PROSC; PRPS1; PRRT2; PSAP; PSEN1; PSPH; PTCH1; PTEN; PTS; PURA; PUS3; QDPR; RAB39B; RAI1; RARS2; RELN; RFT1; RMND1; RNASEH1; RNASEH2A; RNASEH2B; RNASEH2C; ROGDI; RPS6KA3; RRM2B; RTTN; RYR2; SAMHD1; SASS6; SATB2; SCARB2; SCN1A; SCN1B; SCN2A; SCN8A; SCN9A; SCO1; SDHA; SDHAF1; SDHD; SEPSECS; SERPINI1; SETBP1; SETD2; SGCE; SGSH; SHANK3; SHH; SIX3; SLC12A1; SLC12A3; SLC12A6; SLC13A5; SLC16A1; SLC17A5; SLC19A2; SLC19A3; SLC1A2; SLC25A1; SLC25A12; SLC25A19; SLC25A20; SLC25A22; SLC2A1; SLC35A2; SLC35C1; SLC46A1; SLC6A1; SLC6A8; SLC6A9; SLC9A6; SMAD4; SMARCA2; SMARCB1; SMC1A; SMC3; SMS; SNAP25; SNAP29; SNORD118; SON; SPR; SPTAN1; SRPX2; ST3GAL3; ST3GAL5; STIL; STRADA; STX1B; STXBP1; SUCLA2; SUOX; SURF1; SYN1; SYNGAP1; SYP; SZT2; TACO1; TBC1D24; TBCD; TBL1XR1; TBX1; TCF4; TMTC3; TPP1; TREM2; TREX1; TSC1; TSC2; TSEN54; TSFM; TTR; TUBA1A; TUBA8; TUBB2A; TUBB2B; TUBB4A; TUBG1; TYROBP; UBA5; UBE2A; UBE3A; VPS53; WDR45; WDR62; WFS1; WWOX; XPA; ZC4H2; ZDHHC9; ZEB2.

Coleta:

Sangue total em EDTA

Prazo de entrega:

DIÁRIO 36 DIAS

Voltar