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Epilepsia (painel NGS baseado em WES de 597 genes, incluindo análise de CNVs)
AARS, ABAT, ABCC8, ACOX1, ACTL6B, ACY1, ADAR, ADCK3, ADGRG1, ADGRV1, ADPRHL2, ADSL, AGA, AHI1, AIMP1, AKT3, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, AMPD2, AMT, AP2M1, AP3B2, APTX, ARFGEF2, ARG1, ARHGEF9, ARID1B, ARL13B, ARSA, ARSB, ARV1, ARX, ASAH1, ASPA, ASPM, ATIC, ATN1, ATP1A1, ATP1A2, ATP1A3, ATP2A2, ATP6AP2, ATP6V0A2, ATP6V1A, ATP7A, ATPAF2, ATR, ATRX, B4GALT1, BCKDHA, BCKDHB, BCS1L, BOLA3, BRAF, BRAT1, BSCL2, BTD, BUB1B, C12orf57, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNB4, CAD, CASK, CASR, CBL, CC2D2A, CCL2, CDK5RAP2, CDKL5, CDON, CENPJ, CEP152, CEP290, CHD2, CHRNA2, CHRNA4, CHRNB2, CIC, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CLTC, CNKSR2, CNNM2, CNPY3, CNTNAP2, COG1, COG7, COG8, COL18A1, COL4A1, COL4A2, COQ2, COQ4, COQ9, COX15, CPA6, CPT2, CREBBP, CSNK2B, CSTB, CTNNA2, CTSA, CTSD, CUL4B, CUX2, CYFIP2, CYP27A1, D2HGDH, DBT, DCX, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DHDDS, DHPS, DHX30, DIAPH1, DLD, DNM1, DNM1L, DOCK7, DOLK, DPAGT1, DPM1, DPM3, DPYD, DYNC1H1, DYRK1A, EARS2, EEF1A2, EFHC1, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EML1, EMX2, EPG5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, FAR1, FARS2, FBXL4, FBXO11, FGD1, FGF12, FGF8, FGFR3, FH, FKRP, FKTN, FLNA, FLVCR2, FOLR1, FOXG1, FRRS1L, FUCA1, FUT8, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GALC, GAMT, GATM, GBA, GCDH, GCH1, GCSH, GFAP, GFM1, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLUD1, GLUL, GLYCTK, GM2A, GNAO1, GNAQ, GNB1, GNB5, GNPTG, GNS, GOSR2, GPAA1, GPC3, GPHN, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2D, GSS, GTPBP2, GUSB, HACE1, HAX1, HCFC1, HCN1, HCN2, HCN4, HECW2, HEPACAM, HEXA, HEXB, HGSNAT, HLCS, HMGCL, HNRNPH2, HNRNPU, HPD, HRAS, HSD17B10, HSD17B4, HTRA2, IDH2, IDS, IDUA, IER3IP1, IFIH1, IKBKG, IQSEC2, IRF2BPL, ITPA, KARS, KAT6B, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ1, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCNV2, KCTD3, KCTD7, KDM5C, KIAA1109, KIF1A, KIFBP, KIF2A, KIF5C, KMT2D, KMT2E, KRAS, L2HGDH, LAMA2, LBR, LGI1, LIAS, LRPPRC, MACF1, MAF, MAGI2, MAP2K1, MAP2K2, MAPK10, MBD5, MBOAT7, MCOLN1, MCPH1, MDH2, MECP2, MED12, MED17, MEF2C, MFF, MFSD8, MGAT2, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTOR, MTR, NACC1, NAGA, NAGLU, NARS2, NBEA, NDE1, NDUFA1, NDUFA10, NDUFA2, NDUFAF2, NDUFAF5, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NEXMIF, NF1, NGLY1, NHLRC1, NIPBL, NOTCH3, NPC1, NPC2, NPHP1, NPRL2, NPRL3, NRAS, NRXN1, NSD1, NSDHL, NTRK2, NUS1, OCLN, OFD1, OPHN1, OTUD6B, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PANK2, PARS2, PAX6, PC, PCCA, PCCB, PCDH12, PCDH19, PCNT, PDHA1, PDHX, PDSS1, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHACTR1, PHF6, PHGDH, PIGA, PIGB, PIGC, PIGG, PIGH, PIGN, PIGO, PIGQ, PIGT, PIGU, PIGV, PIGW, PIK3R2, PLA2G6, PLAA, PLCB1, PLP1, PLPBP, PMM2, PNKP, PNPO, POLG, POMGNT1, POMT1, POMT2, PPP2CA, PPP3CA, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRMT7, PRODH, PRRT2, PSAP, PTCH1, PTPN11, PTPN23, PURA, QARS, QDPR, RAB11B, RAB18, RAB39B, RAB3GAP1, RAF1, RAI1, RALA, RARS2, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, RORA, RORB, RPGRIP1L, RTN4IP1, RTTN, SAMHD1, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SDHA, SEPSECS, SERPINI1, SETBP1, SGSH, SHH, SHOC2, SIK1, SIX3, SLC12A5, SLC13A5, SLC16A2, SLC17A5, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC2A1, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A1, SLC6A19, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMARCC2, SMC1A, SMC3, SMPD1, SMS, SNAP25, SNAP29, SNORD118, SOS1, SPATA5, SPRED1, SPTAN1, SRPX2, ST3GAL5, STAG1, STAMBP, STIL, STRADA, STX1B, STXBP1, SUCLA2, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TACO1, TANGO2, TBC1D24, TBCD, TBCK, TBL1XR1, TBX1, TCF4, TGIF1, TMEM216, TMEM67, TMEM70, TPP1, TRAK1, TREX1, TRIM8, TRPM6, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, UBA5, UBE2A, UBE3A, UFM1, UNC80, VAMP2, VANGL1, VARS, VPS11, VPS13A, VPS13B, WARS2, WASF1, WDR37, WDR45, WDR62, WDR73, WWOX, YWHAG, ZBTB18, ZDHHC9, ZEB2, ZIC2, ZNHIT3.
Requisite Agora


Metodologia

NGS


Requisitos da Amostra


Descritivo Volume /
Concentração 1
Tipo de
tubo / suporte
Temperatura de
Transporte
Viabilidade da
amostra (dias) 2
DNA ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Ambiente n/a
Sangue periférico ≥ 3 mL EDTA Ambiente 5
1 Quando não for possível colher o volume mínimo para o teste, por favor contacte o CGC Genetics
2 Tempo máximo de envio para assegurar a qualidade da amostra

Tempo de Resposta (dias)

- 60

Especialidades

- Doenças Raras, Neurologia / Neuropediatria


Referência CGC

- 5735




Testes Associados


Epilepsia (painel NGS baseado em WES de 596 genes, incluindo análise de CNVs)
Doenças do movimento (painel NGS baseado em WES de 929 genes, incluindo análise de CNVs)
Doenças do movimento (painel NGS baseado em WES de 905 genes, incluindo análise de CNVs)
Erros inatos do metabolismo (painel NGS baseado em WES de 833 genes, incluindo análise de CNVs)
Erros inatos do metabolismo (painel NGS baseado em WES de 834 genes, incluindo análise de CNVs)