EpiFirst-IS®

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
Turnaround Time (TAT) 14-21 days
Number of Genes 17

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

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. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality 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.

View Full Menu

Search Results

Start your search...