EpilepsyNext is our broad, comprehensive epilepsy panel that includes 100 genes known to cause a variety of epilepsies. EpilepsyNext is an appropriate reflex option following EpiRapid or any EpiFirst tests, allowing for targeted testing of the most relevant genes prior to a broader testing approach. In cases with an unclear history or atypical presentation, EpilepsyNext could be an appropriate first-line test.

Quick Reference
Test Code 7019
Turnaround Time (TAT) 14-21 days
Number of Genes 100

Ordering Options

We now offer single site analysis (SSA) at no additional cost to family members

following single gene or panel testing* of the first family member (proband) within 90 days of the original Ambry report date.

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*excludes Secondary Findings and SNP Array tests

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 using a custom pipeline based on read-depth from NGS data and/or targeted chromosomal microarray with confirmatory MLPA when applicable.


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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