EpiFirst-Neonate

Neonatal seizures can occur from birth until 28 days of life, though the vast majority begin in the first week of life. 1-2% of all neonates in the U.S. will experience seizures.1 Determining whether there is an underlying molecular cause is critical to accurate diagnosis, treatment, prognosis, and genetic counseling.

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Test Code: 7015 Test Name: EpiFirst-Neonate TAT 3-5 weeks Genes: 10
Test Code: 7016 Test Name: EpiFirst-Neonate reflex TAT 3-8 weeks Genes: 100

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Mutation Detection Rate

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

Test Description

EpiFirst-Neonate includes ten genes (listed above) most commonly associated with neonatal 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. Plouin P, Kaminska A. Neonatal seizures. Handb Clin Neurol. 2013;111:467-76.
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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