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 | ||
UNIDADE CENTRAL
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UNIDADE 2 - MED CLÍNICA
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Picarras - SC - CEP 88380-000
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E-mail: laboratoriomedclinica@hotmail.com
Acesse o site da MED Clínica
UNIDADE 3 - BAIRRO SÃO CRISTOVÃO
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Barra Velha - SC - CEP 88390-000
Fone 47 3456-2445
47 98432 4906
E-mail: labsaocristovao@outlook.com
