CustomNext-Epilepsy

CustomNext-Epilepsy allows you to create your own epilepsy gene panel by selecting up to 100 genes of your choosing associated with epilepsy.

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Quick Reference
Test Code 9530
Turnaround Time (TAT) 5-7 weeks
Number of Genes 100
Specimen Requirements Click here

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Mutation Detection Rate

CustomNext-Epilepsy can detect >99.9% of described sequencing and deletion/duplication mutations in included genes, when present (analytic sensitivity).

Test Description

CustomNext-Epilepsy analyzes up to 100 genes (listed above) selected by the ordering healthcare provider. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and next generation sequencing (NGS). All selected genes are evaluated by NGS or Sanger sequencing of all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions.

Additional 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.Gross deletion/duplication analysis is performed for the covered exons and untranslated regions of all ordered genes using multiplex ligation-dependent probe amplification (MLPA) and/or targeted chromosomal microarray. CSTB dodecamer expansion analysis can be added to CustomNext-Epilepsy to increase the diagnostic yield for Unverricht-Lundborg disease, as ~90% of cases are due to a dodecamer repeat expansion. If selected, confirmatory dodecamer repeat expansion analysis of the 5’ untranslated region (5’UTR) of CSTB is performed by Southern blot.

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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