Epilepsy Panel

While some types of seizures are easily categorized (i.e., partial or generalized), others are not or might later develop into different types – i.e., partial seizures with secondary generalization – making targeted panel testing less likely to succeed at reaching a diagnosis. Our epilepsy panel is phenotype-directed and covers different types of seizure syndromes, covering Dravet syndrome, early infantile epileptic encephalopathy, epilepsy partial, epilepsy generalized, epilepsy absence, myoclonic epilepsy panel, and hypomagnesemia. In addition, our panel includes mitochondrial and nuclear mitochondrial genes (i.e., genes causing myoclonic epilepsy with ragged red fibers -MERRF)

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:783 AARS1, AARS2, ABAT, ABCC8, ABCD1, ABCD3, ACAD9, ACADM, ACADS, ACADVL, ACOX1, ACTL6B, ACY1, ADA, ADAM22, ADAMTS10, ADAMTSL2, ADAR, ADGRG1, ADSL, AFF3, AFG3L2, AGA, AGK, AGPS, AIFM1, AIMP1, AIMP2, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, AMPD2, AMT, ANK3, ANTXR2, AP2M1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APP, APTX, ARG1, ARHGAP31, ARHGEF9, ARSA, ARSB, ARV1, ARX, ASAH1, ASL, ASNS, ASPA, ASS1, ASXL1, ATM, ATP13A2, ATP1A2, ATP6AP1, ATP6V0A2, ATP6V1A, ATP7A, ATP7B, ATPAF2, ATRX, AUH, B3GALNT2, B3GLCT, B4GALT1, BCAP31, BCKDHA, BCKDHB, BCS1L, BEST1, BOLA3, BRAT1, BTD, C12orf57, C19orf12, CA5A, CACNA1A, CACNA1E, CACNA1H, CACNA2D2, CACNB4, CARS2, CASK, CAV1, CBS, CCDC115, CCDC88A, CDKL5, CERS1, CHD2, CHMP2B, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CIC, CLCN2, CLCN4, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLP1, CLPP, CLTC, CNNM2, CNPY3, CNTNAP1, CNTNAP2, COA7, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL11A2, COL2A1, COL4A1, COL4A2, COLGALT1, COQ2, COQ8A, COQ9, COX10, COX15, COX20, COX6B1, CP, CPA6, CPLX1, CPS1, CPT1A, CPT2, CSF1R, CSNK2B, CSTB, CTC1, CTNNA2, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CYFIP2, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DCX, DEAF1, DEGS1, DENND5A, DEPDC5, DGUOK, DHCR7, DHDDS, DHFR, DHX30, DIAPH1, DKC1, DLAT, DLD, DLL3, DNAJC5, DNM1, DNM1L, DOCK6, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DYM, DYRK1A, EARS2, ECHS1, EEF1A2, EFHC1, EGF, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF3F, EMC10, EML1, EPG5, EPM2A, EPRS1, ERCC6, ERCC8, ETFA, ETFB, ETFDH, ETHE1, F2, F5, FA2H, FAH, FAM126A, FARS2, FARSB, FASTKD2, FBXL4, FDX2, FGF12, FH, FHL1, FIG4, FKRP, FLVCR2, FOLR1, FOXG