Panel Description
Diseases Targeted:
Encephalopathy
Epilepsy
Seizures
Spasms
Overview:
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.Who is this test for?
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.What are the potential benefits for my patient?
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
Order Options:
Turnaround Time:
3-5 weeks
Cost:
Call for details
Genes:
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, ASAH1, 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, CYFIP2, 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, IRF2BPL, 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, PLPBP, 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
( 401 genes )
Coverage:
96% at 20x
Specimen Requirements:
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
Test Limitations:
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 Specifics:
| Gene | Notes |
|---|---|
| ARX | Heterozygous polyalanine expansions of >7 repeats (21bp) in the ARX gene in females may not be detected by this method. |
| CACNA1A | The current testing method does not assess trinucleotide repeat expansions in this gene. |
| MECP2 | Currently available technologies (NGS and qPCR) are not amenable to detection of single exon deletions/duplications of exon 1 in the MECP2 gene. |
| ZIC2 | The current testing method does not assess trinucleotide repeat expansions in this gene. |