Epilepsy Comprehensive NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes

Panel Description

Encephalopathy
Epilepsy
Seizures
Spasms

Epilepsy is a neurological disorder characterized by abnormal electrical activity in the brain. Clinical features vary by age of onset, type, and frequency. Epilepsy may be part of a syndrome, which typically involve genes associated with cortical development, mitochondrial function, and metabolism. This panel is designed to include a comprehensive set of genes that have seizure activity as a clinical presentation. Patients with complex seizure-related symptoms without a clear etiology may benefit from this test. All genes present in the Neonatal, Childhood, Adolescent/Adult, and PME Epilepsy Panels are included in this panel.
Identification of the specific genetic etiology can help patients in the following ways:
  • Confirm a clinical diagnosis or genetic syndrome
  • Help determine medical management
  • Provide information about clinical course of disease
  • Family testing for at-risk relatives

Test Description

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Download TRF
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
3 - 5 weeks
Call for details
ABAT, ABCC8, ACY1, ADAR, ADGRG1, ADGRV1, ADRA2B, ADSL, AGA, AHI1, AKT3, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, AMT, ANK3, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARL13B, ARSA, ARSB, ARX, ASNS, ASPA, ASPM, ATIC, ATP13A2, ATP1A2, ATP2A2, ATP6AP2, ATP6V0A2, ATPAF2, ATRX, AUH, B4GALT1, BCKDK, BCS1L, BOLA3, BRAF, BRAT1, BRD2, BTD, BUB1B, C12orf57, CACNA1A, CACNA1H, CACNA2D2, CACNB4, CASK, CASR, CBL, CC2D2A, CCDC88C, CCL2, CDKL5, CENPJ, CEP290, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTN2, CNTNAP2, COG7, COG8, COL18A1, COL4A1, COQ2, COQ8A, COQ9, COX10, COX15, CPA6, CPT2, CRH, CSTB, CTSA, CTSD, CTSF, CUL4B, DCX, DEPDC5, DHCR7, DHFR, DLD, DNAJC5, DNM1, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPYD, DYNC1H1, DYRK1A, EEF1A2, EFHC1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, EPM2A, ETFDH, FARS2, FASN, FGD1, FGFR3, FH, FKRP, FKTN, FLNA, FOLR1, FOXG1, FUCA1, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GALC, GAMT, GATM, GCDH, GCSH, GFAP, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLUD1, GNAO1, GNE, GNS, GOSR2, GPC3, GPHN, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HCN4, HDAC4, HECW2, HEXA, HEXB, HGSNAT, HNRNPU, HPD, HRAS, HSD17B10, IDS, IQSEC2, KANSL1, KCNA1, KCNA2, KCNAB2, KCNB1, KCNC1, KCNH2, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNV2, KCTD7, KDM5C, KDM6A, KIF1BP, KMT2D, KPNA7, KRAS, L2HGDH, LAMA2, LARGE1, LBR, LGI1, LIAS, LRPPRC, MAP2K1, MAP2K2, MAPK10, MBD5, MCOLN1, MCPH1, MDH2, ME2, MECP2, MED12, MED17, MEF2C, MFSD8, MGAT2, MLC1, MOCS1, MOCS2, MOGS, MPDU1, MTHFR, MTOR, NAGLU, NDE1, NDUFA1, NDUFA2, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEDD4L, NEU1, NEXMIF, NF1, NGLY1, NHLRC1, NIPBL, NOTCH3, NPC1, NPC2, NPHP1, NR2F1, NRXN1, NSD1, NTNG1, OFD1, OPHN1, PAFAH1B1, PAK3, PANK2, PC, PCDH19, PCNT, PDHA1, PDSS2, PEX1, PEX12, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHF6, PIGA, PIGO, PIGV, PLA2G6, PLCB1, PLP1, PMM2, PNKP, PNPO, POLG, POMGNT1, POMT1, POMT2, PPP3CA, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRODH, PRRT2, PSAP, PTCH1, PTPN11, PURA, QARS, QDPR, RAB39B, RAB3GAP1, RAI1, RARS2, RBFOX1, RBFOX3, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPGRIP1L, RYR3, SAMHD1, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO2, SDHA, SERPINI1, SETBP1, SGSH, SHH, SHOC2, SIK1, SIX3, SLC12A5, SLC13A5, SLC17A5, SLC19A3, SLC1A3, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC2A1, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC4A10, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SMC3, SMS, SNAP25, SPRED1, SPTAN1, SRGAP2, ST3GAL3, ST3GAL5, STIL, STX1B, STXBP1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYP, SZT2, TACO1, TBC1D24, TBL1XR1, TBX1, TCF4, TMEM67, TMEM70, TNK2, TPP1, TREX1, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2A, TUBB2B, TWNK, UBE2A, UBE3A, UNC80, VPS13A, VPS13B, WDR45, WWOX, ZEB2, ZIC2 ( 397 genes )
96% at 20x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

Gene Notes
CSTBThe current testing method does not assess repeat expansions in this gene.
MECP2Currently available technologies (NGS and qPCR) are not amenable to detection of single exon deletions/duplications of exon 1 in the MECP2 gene.
ZIC2The current testing method does not assess trinucleotide repeat expansions in this gene.
CPT Code 81210, 81401, 81405, 81406, 81407, 81479x2

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

Resources

DescriptionDownload
Epilepsy Fact Sheet for Patients