Infantile spasms (IS) are characterized by epileptic spasms, sometimes associated with hypsarrhythmia on EEG and developmental regression. Genetic testing can be helpful in distinguishing the underlying molecular mechanism, which can be critical to guiding appropriate treatment, prognosis, and genetic counseling.


Quick Reference
Test Code: 7013 Test Name: EpiFirst-IS TAT 4-6 weeks Genes: 17
Test Code: 7014 Test Name: EpiFirst-IS reflex TAT 4-8 weeks Genes: 100

Ordering Options

Mutation Detection Rate

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

Test Description

EpiFirst-IS includes 17 genes (listed above). 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 methodology 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).

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.

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...