EpiRapid
Emerging evidence shows that people with epilepsy who have certain genetic mutations may benefit from changes in their current treatment. EpiRapid offers quick results to help inform treatment as soon as possible.
Either blood or saliva sample is accepted for EpiRapid. Results are available in 10-14 days.
- AmbryPort Login or create an account
- Order a Sample Kit
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.
Order Now*excludes Secondary Findings and SNP Array tests
Mutation Detection Rate
EpiRapid can detect >99.9% of described sequencing mutations in the included genes and deletion/duplication mutations in MECP2, when present (analytic sensitivity).
Test Description
EpiRapid includes 16 genes with reported therapeutic associations: ALDH7A1, FOLR1, KCNQ2, KCNQ3, KCNT1, MECP2, PCDH19, PNPO, POLG, PRRT2, SCN1A, SCN8A, SLC2A1, STXBP1, TSC1, and TSC2. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit 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).
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.1 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 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.