Painel Expandido para Epilepsias |
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| Sinonimo | sequenciamento nova geracao genes de epilepsia | |
| Material | sangue total EDTA | |
| Volume | 5,0 mL | |
| Método | Next Generation Sequencing - NGS | |
| Volume Lab. | 5,0 mL | |
| Rotina | ||
| Código SUS | ||
| CBHPM | ||
| Resultado | 35 dia(s) | |
| Temperatura | Ambiente | |
| Coleta | Coleta de sangue em tubo EDTA. Para envio desse exame e imprescindivel o pedido medico e termo de consentimento REQ05296 - Termo de consentimento para sequenciamento de nova geração, devidamente preenchido. Manter e transportar a amostra em temperatura ambiente. | |
| Interpretação | Genes analisados: AARS, ABAT, ABCC8, ACOX1, ACY1, ADCK3, ADRA2B, ADSL, AGA, AHI1, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMT, AP3B2, ARFGEF2, ARG1, ARHGEF9, ARL13B, ARSA, ARSB, ARX, ASPA, ASPM, ATIC, ATP1, A2ATP1, A3ATP2, A2ATP5, A1ATP6, AP2, ATP6V0A2, ATP7A, ATPAF2, ATR, ATRX, B4GALT1, BCS1L,BRAF, BRAT1, BTD, C12orf57, C12ORF65, CACNA1A, CACNB4, CASK, CASR, CC2D2A, CCDC88C, CDK5RAP2, CDKL5, CDON, CENPJ, CEP152, CEP290, CHD2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COG1, COG4, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COQ2, COQ9, COX10, COX15, CPA6, CPT2, CSTB, CTSA, CTSD, CUL4B, DCX, DDC, DDOST, DHCR7 ,DLD, DNAJC5, DNM1, DOLK, DPAGT1, DPM1, DPM3, DPYD, DYRK1A, EFHC1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, EPM2A, ETFA, ETFB, ETFDH, FGD1, FGF8, FGFR3, FH, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXRED1, FUCA1, GABRA1, GABRB1, GABRB3, GABRD, GABRG2, GAL, GALC, GALNS, GAMT, GATM, GCDH, GCSH, GFAP, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLUD1, GLUL, GNE, GNPTAB, GNPTG, GNS, GOSR2, GPC3, GPHN, GPR56, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, GUSB, HCN1, HERC2, HEXA, HEXB, HGSNAT, HNRNPU, HPD, HRAS, HSD17B10, HSD17B4, HYAL1, IDS, IDUA, IQSEC2, ITPA, KAT6B, KCNA1, KCNJ10, KCNJ11, KCNQ2, KCNQ3, KCTD7, KDM5C, KIAA1279, KMT2D, KRAS, L2HGDH, LAMA2, LARGE, LBR, LGI1, LMNB2, LRPPRC, MAGI2, MAGT1, MAP2K1, MAP2K2, MAPK10, MBD5, MCOLN1, MCPH1, MECP2, MED17, MEF2C, MFSD8, MGAT2, MLC1, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTR, MTRR, NAGLU, NDE1, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEDD4L, NEU1, NF1, NHLRC1, NIPBL, NOTCH3, NPC1, NPC2, NPHP1, NRAS, NRXN1, OFD1, OPHN1, PAFAH1B1, PAK3, PANK2, PC, PCDH19 , PCNT, PDHA1, PDHX, PDSS1, PDSS2, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PGM1, PHF6, PHGDH, PIGA, PIGV, PLA2G6, PLCB1, PLP1, PMM2, PNKP, PNPO, POLG, POMGNT1, POMT1, POMT2, PPT1, PQBP1, PRICKLE1, PRODH, PRRT2, PSAP, PSAT1, PTCH1, QDPR, RAB39B, RAB3GAP1, RAF1, RAI1, RARS2, RBFOX1, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPGRIP1L, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO2, SDHA, SERPINI1, SETBP1, SGSH, SHH, SHOC2, SIX3, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A3, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC2A1, SLC35A1, SLC35C1, SLC46A1, SLC4A10, SLC6A5, SLC6A8, SLC9A6, SMC1A, SMC3, SMPD1, SMS, SNAP29, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STIL, STXBP1, SUCLA2, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYP, TACO1, TBX1, TCF4, TGIF1, TMEM165, TMEM216, TMEM67, TMEM70, TPP1, TREX1, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUSC3, UBE3A, VPS13A, VPS13B, VRK1, WDR62, WWOX, ZEB2, ZIC2, CHRNA2, KANSL1, LIAS, ATP13A2, GBA, TBC1D24. | |
| Referência | ||
Barra Velha
Piçarras
Barra Velha
