Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 319 genes associated with epilepsy and a polymerase chain reaction-based assay to detect CSTB dodecamer repeat expansions:

ABAT, ACO2, ACY1, ADARB1, ADGRG1, ADSL, AFG3L2, AIFM1, AKT2, ALDH3A2, ALDH5A1, ALDH7A1, ALG13, AMT, AP2M1, APOPT1 (COA8), ARFGEF2, ARHGEF9, ARX, ASAH1, ASNS, ATN1, ATP1A2, ATP1A3, ATRX, BCKDK, BCS1L, BOLA3, BRAT1, C12orf57, CACNA1A, CACNA1E, CACNA2D2, CAD, CARS2, CASK, CCM2, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COA8 (APOPT1), COG7, COG8, COL18A1, COL4A1, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, CPT2, CSF1R, CSTB, CTSD, CTSF, CUL4B, D2HGDH, DCX, DDC, DDX3X, DEPDC5, DHFR, DIAPH1, DLD, DMXL2, DNAJC5, DNM1, DNM1L, DOCK7, DYRK1A, EARS2, EEF1A2, EHMT1, EIF2AK2, EPM2A, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FH, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXRED1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GCK, GFM1, GLDC, GLRA1, GLUL, GNAO1, GOSR2, GPAA1, GPC3, GPHN, GRIA3, GRIN1, GRIN2A, GRIN2B, GYS2, HCFC1, HCN1, HIBCH, HNRNPU, HSD17B10, IARS2, IBA57, IDH2, IER3IP1, IQSEC2, ITPA, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KDM6A, KRIT1, L2HGDH, LAMA2, LARGE1, LGI1, LIAS, LRPPRC, MBD5, MECP2, MEF2C, MFSD8, MICU1, MOCS1, MOCS2, MTFMT, MTO1, MTOR, NALCN, NDUFA1, NDUFA2, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFS1, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEU1, NEXMIF, NGLY1, NHLRC1, NOTCH3, NPRL2, NPRL3, NR2F1, NR4A2, NRROS, NRXN1, OCLN, OFD1, OPHN1, OTUD6B, P4HTM, PACS1, PACS2, PAFAH1B1, PAK3, PCDH12, PCDH19, PDCD10, PDHA1, PDHB, PDHX, PDP1, PDSS2, PEX7, PHF6, PHGDH, PIGA, PIGG, PIGK, PIGL, PIGM, PIGN, PIGO, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PLCB1, PLP1, PLPBP, PNKP, PNPLA8, PNPO, POLG, POMGNT1, POMT1, POMT2, PPP2R5D, PPT1, PRRT2, PURA, QARS1, RAB39B, RAB3GAP1, RALA, RALGAPA1, RANBP2, RARS2, RELN, RMND1, ROGDI, RRM2B, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO2, SDHAF1, SERAC1, SERPINI1, SETBP1, SETD2, SIK1, SLC12A5, SLC13A5, SLC16A1, SLC19A3, SLC25A1, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SMS, SNAP25, SNAP29, SNX27, SPATA5, SPR, SPTAN1, ST3GAL3, ST3GAL5, STRADA, STX1B, STXBP1, SUCLA2, SUOX, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TBC1D24, TBL1XR1, TCF4, TPK1, TPP1, TSC1, TSC2, TSFM, TUBA1A, TUBA8, TUBB2B, TWNK, UBE3A, UGP2, USP7, VARS2, VLDLR, WDR26, WDR37, WDR45, WDR62, WWOX, YWHAG, ZDHHC9, and ZEB2. See Targeted Genes and Methodology Details for Comprehensive Epilepsy With or Without Encephalopathy Gene Panel and Method Description for additional details.

Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, recurrence risk assessment, and genetic counseling for hereditary forms of epilepsy.

Additional first-tier testing may be considered/recommended. For more information see Ordering Guidance and Testing Algorithm sections.