PMEFirst

The progressive myoclonus epilepsies (PME) are a group of disorders that affect the central nervous system, causing progressive myoclonus and other neurologic deficits. Genetic testing can help establish the correct underlying diagnosis, which can guide management.

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Test Code: 7020 Test Name: PMEFirst TAT 4-6 weeks Genes: 3
Test Code: 7021 Test Name: PME reflex TAT 4-8 weeks Genes: 21

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Mutation Detection Rate

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

Test Description

PMEFirst includes 3 genes (listed above) most commonly associated with PME. PMENext includes 21 genes (listed above) associated with PME. All genes on both PMEFirst and PMENext are also included in our comprehensive epilepsy panel, EpilepsyNext. 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. 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. Confirmatory dodecamer repeat expansion analysis of the 5’ untranslated region (5’UTR) of CSTB is performed by Southern blot.

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.

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