EpilepsyNext-Expanded

Identifying an underlying genetic cause for a patient's epilepsy can provide a clear diagnosis, inform personalized medical management, and identify at-risk relatives. EpilepsyNext-Expanded™ is a >890-gene panel design to identify genetic causes of epilepsy-related disorders, primarily with neonatal to childhood onset. Genes included are associated with epilepsy-only disorders, syndromic conditions in which seizures have been reported, as well as treatable metabolic conditions that can include seizures when undiagnosed and/or untreated. 
Patient Consent English | Spanish
Neurological Disorders Patient Guide English | Spanish
Quick Reference
Test Code 6865
Turnaround Time (TAT) 2-4 weeks
Number of Genes 892

Ordering Options

We offer family variant testing at no additional cost

for all blood relatives of patients who undergo full single gene sequencing or multigene panel testing* at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original Ambry report date.

Order Now

*excludes Secondary Findings and SNP Array tests

Patient for Life Program

For patients undergoing this test, Ambry will continually review data for potential pathogenic or likely pathogenic variants in newly characterized genes and will proactively issue reclassification reports, as applicable. Ask your Genomic Science Liaison for more details. 


Why Is This Important?

Benefits of genetic testing for seizure disorders may include: 

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

 

Test Description

EpilepsyNext-Expanded evaluates >890 genes assocaited with a variety of seizure disorders. Panel content is regularly updated based on proactive review of current literature using an internal, peer-reviewed clinical validity scheme.The patient’s test report will include a list of genes evaluated. For the most up-to-date gene lists, see above.  

Ambry Genetics neurology panels are completed via whole exome capture with targeted analysis of clinically relevant gene lists.2 FMR1 repeat expansion testing is not included in this test, but can be ordered concurrently. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized methodology and quantified. Each DNA sample is sheared, adaptor ligated, PCR-amplified and incubated with the exome baits. Captured DNA is eluted, and PCR amplified. Final quantified libraries are seeded onto an Illumina flow cell and sequenced using paired-end, 150 cycle chemistry on the Illumina HiSeq or NextSeq. 

Coding exons plus at least 6 bases into the 5’ and 3’ ends of all the introns are analyzed and reported. Gross deletion/duplication analysis is assessed for all genes within the targeted exome using a custom pipeline based on coverage (>4 exons in size) and/or breakpoint analysis from NGS data and confirmed by targeted chromosomal microarray, SNP array or MLPA when applicable. CNVs detected by NGS pipeline for which no orthogonal method of confirmation is available will not be included. Variants of uncertain significance (VUS), if present, are not routinely reported, unless the ordering provider opts-in to VUS reporting at the time of ordering.  

Co-segregation studies are performed if family members are available. Co-segregation results may be confounded by many factors which cannot be completely ruled out including reduced penetrance, age-of-onset, and/or variable expressivity. In most cases, phase cannot be determined. 

1. Smith ED, Radtke K, Rossi M, et al. 2017. Human Mutation. 38(5):600-608

2. LaDuca H, Farwell KD, Vuong H, et al., 2017. PLoS ONE 12(2):e0170843

View Full Menu

Search Results

Start your search...