EpiFirst-Focal

Originally thought to have no genetic basis, there is now increasing evidence that genetics plays a role in the development of focal epilepsy. Understanding the underlying molecular basis of an epilepsy syndrome can assist in tailoring treatment recommendations and genetic counseling.

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Test Code: 7017 Test Name: EpiFirst-Focal TAT 4-6 weeks Genes: 11
Test Code: 7018 Test Name: EpiFirst-Focal reflex TAT 4-8 weeks Genes: 100

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Mutation Detection Rate

EpiFirst-Focal can detect >99.9% of described mutations in the included genes, when present (analytic sensitivity).

Test Description

EpiFirst-Focal includes 11 genes (listed above) most commonly associated with non-lesional focal epilepsy. All of these genes are included in our comprehensive epilepsy panel, EpilepsyNext, as well. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and next generation sequencing (NGS).

Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing. This assay targets all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. Gross deletion/duplication analysis for available genes is performed utilizing a targeted chromosomal microarray. 

1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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