EpilepsyNext

We make epilepsy genetic testing easier for you with our intuitive, tiered approach. Target the most likely genes for your patient’s epilepsy with an EpiFirst panel, or broaden your search with EpilepsyNext. One sample, one bill.

Downloads

Quick Reference
Test Code 7019
Turnaround Time (TAT) 5-7 weeks
Number of Genes 100
Specimen Requirements Click here

Ordering Options

Why Is This Important?

  1.  Availability of tailored treatment options (e.g. mTOR inhibitors for TSC1/TSC2, avoid sodium channel blockers for SCN1A)
  2.  Avoid alternative, potentially invasive testing
  3.  Identification of at-risk family members

Mutation Detection Rate

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

Test Description

Our comprehensive epilepsy panel, EpilepsyNext, maximizes diagnostic yield by including relevant genes covering a wide phenotypic spectrum, including newly characterized genes with sufficient causative evidence. EpilepsyNext includes 100 genes associated with genetic epilepsy (listed above). 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).

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.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. CSTB dodecamer expansion analysis can be added to EpilepsyNext to increase the diagnostic yield for Unverricht-Lundborg disease. 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.

View Full Menu

Search Results

Start your search...