AGDx NGS – Epilepsy panel v3

Test code: V00294
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Genes

AARS, ABAT, ABCC8, ACTB, ACTL6B, ACY1, ADAM22, ADSL, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG13, ALG3, ALG6, AMACR, AMPD2, AMT, ANKRD11, AP3B2, ARHGEF9, ARID1B, ARV1, ARX, ASAH1, ASL, ASNS, ASXL3, ATAD1, ATP1A2, ATP1A3, ATP6AP2, ATP7A, ATRX, AUTS2, BOLA3, BRAT1, BTD, CACNA1A, CACNA1E, CACNA2D2, CACNB4, CAD, CASK, CBS, CDKL5, CERS1, CERT1, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CIC, CLCN4, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CNKSR2, CNNM2, CNTN2, CNTNAP2, COA8, COL4A1, COLGALT1, COQ2, COQ4, COQ8A, CPA6, CPS1, CPT1A, CPT2, CSNK2B, CSTB, CTNND2, CTSD, CTSF, CUL4B, CUX2, D2HGDH, DCX, DDX3X, DENND5A, DEPDC5, DHDDS, DLAT, DNAJC5, DNM1, DNM1L, DOCK7, DPAGT1, DPM1, DPM2, DPYD, DPYS, DYNC1H1, DYRK1A, EEF1A2, EFHC1, EGF, EHMT1, EPM2A, ETHE1, EXOSC3, FA2H, FARS2, FASN, FGD1, FGF12, FLNA, FOLR1, FOXG1, FOXRED1, FRMPD4, FRRS1L, FXYD2, GABBR2, GABRA1, GABRA2, GABRA3, GABRB2, GABRB3, GABRE, GABRG2, GAMT, GCK, GCSH, GLDC, GLRA1, GLRB, GLUD1, GNAO1, GNB1, GOSR2, GPC3, GPHN, GRIA2, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, HACE1, HADH, HCFC1, HCN1, HCN2, HDAC4, HLCS, HNRNPU, HPRT1, HSD17B10, HSD17B4, HUWE1, ICK, IDH2, IER3IP1, IFIH1, INTS8, IQSEC2, IRF2BPL, ITPA, JAM3, KANSL1, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCND3, KCNH1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCTD7, KDM5C, KMT2A, KPNA7, KPTN, LAMB1, LGI1, LIAS, MBD5, MDH2, MECP2, MED12, MEF2C, MFF, MFSD8, MLC1, MOCS1, MOCS2, MPDU1, MPDZ, MTHFR, MTOR, MTRR, NACC1, NALCN, NANS, NAPB, NBEA, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NEXMIF, NGLY1, NHLRC1, NPRL2, NPRL3, NRXN1, NSDHL, NUBPL, OCLN, OFD1, OPHN1, PAFAH1B1, PAK3, PC, PCDH19, PDHA1, PDHB, PDP1, PDX1, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PEX3, PEX5, PEX6, PGAP1, PGAP3, PHF6, PHGDH, PIGA, PIGH, PIGN, PIGO, PIGP, PIGT, PIGV, PLA2G6, PLCB1, PLP1, PLPBP, PMM2, PNKP, PNPO, POLG, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRF1, PRICKLE1, PRICKLE2, PRIMA1, PRPS1, PRRT2, PSAP, PSAT1, PSPH, PUM1, PURA, PYCR2, QARS, RAB39B, RAI1, RANBP2, RARS2, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPS6KA3, RRM2B, SAMHD1, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SEPSECS, SERPINI1, SHANK3, SIK1, SLC12A5, SLC13A5, SLC16A1, SLC16A2, SLC19A3, SLC1A2, SLC1A3, SLC25A1, SLC25A15, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMC1A, SMPD4, SMS, SNAP25, SON, SPATA5, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STX1B, STXBP1, SUOX, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TANGO2, TBC1D23, TBC1D24, TBCD, TBCE, TBCK, TCF4, TDP2, TOE1, TPP1, TREX1, TRIO, TRPM6, TSC1, TSC2, TSEN15, TSEN2, TSEN54, TUBA1A, TUBB2A, TUBB2B, TUBB4A, TUBG1, UBA5, UBE2A, UBE3A, UBTF, UGDH, UGP2, VPS53, WDR26, WDR45, WWOX, XK, YWHAG, ZDHHC9, ZEB2

Lab method

NGS Sequencing

Turnaround time

3 months

Location

Location VU

Price  1.115,00

Disorder(s)

  • Epileptic encephalopathy early infantile 2 - Rett syndrome atypical (OMIM: 300672)
  • Epileptic encephalopathy - early infantile - 11 (OMIM: 613721)
  • Epileptic encephalopathy - early infantile - 25 (OMIM: 615905)
  • Epileptic encephalopathy early infantile 2 - Rett syndrome atypical (OMIM: 300672)