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Comprehensive Epilepsy Gene Test Panel
- Epilepsy Comprehensive NGS Genetic Test Panel Del/Dup
Sequencing and copy number analysis of 69 genes: ALDH7A1, FOLR1, PNPO, POLG, SCN1A, SLC2A1, SLC6A8, GAMT, GATM, PHGDH, PSAT1, PSPH, GLDC, AMT, MOCS1, SUOX, CDKL5, ARX, PCDH19, KCNQ2, STXBP1, SCN2A, CHD2, SCN8A, SPTAN1, SCN1B, GRIN2A, GRIN2B, DNM1, TBCID24, HCN1, NECAP1, DOCK7, SYNGAP1, MECP2, MEF2C, KCNQ3, PRRT2, TSC1, TSC2, CHRNA7, FOXG1, MBD5, UBE3A, SLC9A6, TCF4, NRXN1, CNTNAP2, ZEB2, KCNJ10, PNKP, KCNT1, PLCB1, SCN9A, ATP1A2, ATP1A3, KCNJ11, CSTB, NHLRC1, EPM2A, SCARB2, KCNC1, GOSR2, KCTD7, CERSI, ASAH1, PRICKLE2, LMNB2, NEU1
Individuals with epilepsy who may benefit from genetic testing include those with infantile onset, epilepsy refractory to treatment, epilepsy plus developmental delay, or families that may choose to have prenatal testing in future pregnancy. Epilepsy is a group of phenotypically and genetically heterogeneous diseases that are characterized by recurrent and unprovoked seizures. It can develop at any age, but most commonly in early childhood, particularly in the first year of life. About two thirds of epilepsies have a genetic component, displaying two important features: one gene can be associated with multiple epilepsy disorders, and multiple genes can be associated with one epilepsy disorder.
This assay does not detect low level germline mosaicism and does not rule out the presence of large chromosomal aberrations including deletions, insertions, and rearrangements, or pathogenic variants in regions or genes not included in this test, and possible inter/intragenic interactions between sequence variants. False-positive or false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, mislabeling of samples, or erroneous representation of family relationships. Testing is highly accurate, however, rare diagnostic errors can arise from specimen mishandling or misinterpretation; and it has been reported that as much as 0.5% error rate may occur in any of the pre-analytical/analytical or post analytical phases of the test.
This test was developed, and its performance characteristics determined by, Impact Genetics, LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).
All coding exons and 20 bp of flanking intronic sequence are enriched using a custom targeted hybridization protocol (Roche Nimblegen), followed by high throughput sequencing (Illumina). Sequence variants and copy number changes are assessed and interpreted using clinically validated algorithms and commercial software (SoftGenetics: Nextgene, Geneticist Assistant,Mutation Surveyor; and Alamut Visual). All exons have >1000x mean read depth coverage, with a minimum 200x coverage at a single minimum 200x coverage at a single nucleotide resolution. This assay meets the sensitivity and specificity of combined Sanger sequencing and MLPA copy number analysis. All variants interpreted as either ACMG category 1, 2, or 3 (pathogenic, likely pathogenic, VUS) are confirmed using Sanger sequencing, MLPA, or other assays. ACMG category 4 and 5 variants (likely benign, benign) are not reported, but are available upon request. This assay has been validated at a level of sensitivity equivalent to the Sanger sequencing and standard copy number analysis (>99%).
Whole blood samples must be received at Impact Genetics within five days of collection.
Room temperature. Stable at room temperature for five days.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container
Testing referred to Impact Genetics, Ontario, Canada. Please direct any questions regarding this test to 877-624-9769.