Early onset epilepsy, panel (50 genes) NGS, biological sample

Description, Studied genes and Delivery Time Modification

Test code: 7415

Effective update from 15/11/2021

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Early onset epilepsy, panel (50 genes) NGS, biological sample Studied genes: AARS, ALG13, ARHGEF9, ARX, BRAT1, CACNA1A, CASK, CHD2, CDKL5, DNM1, EEF1A2, FOLR1, GABRA1, GABRB1, GABRB3, GABRG2, GNAO1, GRIN1, GRIN2A, GRIN2B, HCN1, ITPA, KCNQ2, KCNQ3, KCNT1, NECAP1, PCDH19, PIGA, PIGO, PLCB1, PNKP, PNPO, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC12A5, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SZT2, TBC1D24, WWOX.                Delivery term: 57 days       Version of Test: 15

EARLY START EPILEPSY · PANEL · NGS                   Studied Genes: AARS, ALG13, ARHGEF9, ARV1, ARX, BRAT1, CACNA1A, CACNA1H, CASK, CDKL5, CHD2, DNM1, DOCK7, EEF1A2, FGF12, FOLR1, FRRS1L, GABRA1, GABRB1, GABRB3, GABRG2, GNAO1, GRIN1, GRIN2A, GRIN2B, GRIN2D, HCN1, ITPA, KCNA2, KCNB1, KCNQ2, KCNQ3, KCNT1, NECAP1, PCDH19, PIGA, PIGO, PIGQ, PLCB1, PNKP, PNPO, PURA, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SIK1, SLC12A5, SLC13A5, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SZT2, TBC1D24, UBA5, WWOX       Delivery term: 42 days       Version of Test: 16

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