EpiRapid evaluates 22 genes associated with genetic epilepsies which may impact seizure management and offers quick results in 10-14 days to help inform patient care as soon as possible.
| Test Code | 6862 |
| Turnaround Time (TAT) | 10-14 days |
| Number of Genes | 22 |
We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.
Order NowFor 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.
Particular genetic causes of epilepsy may be more or less responsive to certain types of therapies. Early genetic diagnosis can inform customized and appropriate seizure management. EpiRapid evaluates genes associated with epilepsy that may have immediate therapeutic implications for seizure management in a rapid timeframe. Either blood or saliva sample is accepted for EpiRapid.
Ambry Genetics neurology panels are completed via whole exome capture with targeted analysis of clinically relevant gene lists.1 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.
When familial samples are received, co-segregation analysis of potentially informative alterations will be performed, except for gross deletions/duplications which are confirmed in the proband only. 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. LaDuca H, Farwell KD, Vuong H, et al., 2017. PLoS ONE 12(2):e0170843