Early Infantile Epilepsy Panel

Test Information
Test Name Early Infantile Epilepsy Panel
Lab (Location) London Health Sciences Centre
Category Neurogenetics
Subcategory Early Infantile Epilepsy
Gene/Platform/Region List ABAT, ADSL, ALDH7A1, ALG13, AP3B2, ARHGEF9, ARV1, ARX, CACNA1A, CACNA1E, CAD, CDKL5, CHD2, DCX, DNM1, DOCK7, DYRK1A, EEF1A2, FGF12, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GLDC, GNAO1, GRIN2A, GRIN2B, GRIN2D, HCN1, HNRNPU, ITPA, KCNA1, KCNA2, KCNB1, KCNH5, KCNQ2, KCNQ3, KCNT1, MDH2, MECP2, MEF2C, NGLY1, PCDH19, PIGA, PIGG, PIGN, PIGO, PIGT, PIGV, PLCB1, PNKP, PNPO, POLG, PRRT2, PURA, SCN1A, SCN1B, SCN2A, SCN8A, SLC12A5, SLC13A5, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SPATA5, SPTAN1, ST3GAL5, STX1B, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, UBA5, WDR45, WWOX, YWHAG
Test type Gene Panel
Samples Accepted Blood, DNA
Indications Diagnosis Diagnosis, Carrier / Cascade Testing, Prenatal
Test Methodology CNV, Sequencing
Methodology Notes Sequencing + CNV
Diseases/Conditions Epilepsy