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Painel Expandido para Epilepsias


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  

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