AGDx NGS – Epilepsy panel v2

Test code: V00294
To add a test to your selection, choose ONE clinical indication. Additional indications/information can be specified after clicking Order test
Clear
Genes

AARS, ABAT, ABCC8, ACTB, ACY1, ADCK3, ADSL, ALDH7A1, ALG1, ALG11, ALG13, ALG3, ALG6, AMACR, AMT, APOPT1, ARHGEF9, ARID1B, ARX, ASAH1, ASL, ATP1A2, ATP1A3, ATP6AP2, ATP7A, ATRX, AUTS2, BOLA3, BRAT1, BTD, CACNA1A, CACNA1E, CACNA2D2, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CNNM2, CNTN2, CNTNAP2, COL4A1, COL4A3BP, COQ2, COQ4, CPA6, CPS1, CPT1A, CPT2, CSTB, CTSD, CTSF, CUL4B, D2HGDH, DCX, DEPDC5, DLAT, DNAJC5, DNM1, DOCK7, DPAGT1, DPM1, DPM2, DPYD, DYNC1H1, DYRK1A, EEF1A2, EGF, EHMT1, EPM2A, FA2H, FARS2, FGD1, FLNA, FOLR1, FOXG1, FOXRED1, FXYD2, GABRA1, GABRB3, GABRG2, GAMT, GCK, GCSH, GLDC, GLRA1, GLRB, GLUD1, GNAO1, GOSR2, GPC3, GPHN, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HADH, HCN1, HDAC4, HLCS, HNRNPU, HSD17B10, HSD17B4, IDH2, IER3IP1, IFIH1, IQSEC2, JAM3, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIAA2022, KPTN, LGI1, LIAS, MBD5, MECP2, MED12, MEF2C, MFSD8, MLC1, MOCS1, MOCS2, MPDU1, MTHFR, MTOR, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NECAP1, NEDD4L, NGLY1, NHLRC1, NPRL2, NPRL3, NRXN1, NUBPL, OFD1, OPHN1, PAK3, PC, PCDH19, PDHA1, PDHB, PDP1, PDX1, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PEX3, PEX5, PEX6, PGAP3, PHF6, PHGDH, PIGA, PIGN, PIGO, PIGT, PLA2G6, PLCB1, PLP1, PMM2, PNKP, PNPO, POLG, PPP2R1A, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRRT2, PURA, PYCR2, QARS, RAB39B, RARS2, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPS6KA3, RRM2B, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC13A5, SLC16A1, SLC19A3, SLC25A1, SLC25A15, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SMS, SPTAN1, ST3GAL3, ST3GAL5, STX1B, STXBP1, SUOX, SYN1, SYNGAP1, SYP, SZT2, TANC2 TANGO2, TBC1D24, TBCE, TCF4, TDP2, TPP1, TREX1, TRPM6, TSC1, TSC2, TSEN54, TUBA1A, TUBB2A, UBE3A, WWOX, XK, ZEB2

Lab method

NGS Sequencing

Turnaround time

3 months

Price  1.115,00

Category:

  • 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)