EpiFirst-Fever

Febrile seizures are convulsions associated with a body temperature above 38.0° Celsius (100.4° Fahrenheit), without evidence of an underlying health issue or prior seizure history.1 Febrile seizures can be the presenting symptom of many clinical epilepsy syndromes, and accurate diagnosis can clarify both prognosis and management.

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Test Code: 7011 Test Name: EpiFirst-Fever TAT 4-6 weeks Genes: 13
Test Code: 7012 Test Name: EpiFirst-Fever Reflex TAT 4-8 weeks Genes: 100

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Mutation Detection Rate

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

Test Description

EpiFirst-Fever includes 13 genes (listed above) most commonly associated with febrile seizures. 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 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.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. Subcommittee on Febrile Seizures; American Academy of Pediatrics. Neurodiagnostic evaluation of the child with a simple febrile seizure. Pediatrics. 2011;127(2):389-394.

2. 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.

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