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Everything You Need to Know about EpiSign Complete

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Greenwood Genetic Center
Everything You Need to Know about EpiSign Complete

EpiSign is a methylation assay designed to readily identify proven and reproducible epigenetic signatures by assessing genome-wide methylation. EpiSign has multiple applications in the clinical setting. EpiSign Complete is a comprehensive analysis that includes over 90 genes and disorders indicated below.  This assay can detect multiple methylation abnormalities associated with certain imprinting or triplet repeat conditions via a targeted analysis of the associated gene or region. EpiSign can also identify disease-specific methylation patterns involving multiple loci across the genome. These unique methylation patterns, or epigenetics signatures, have been associated with a number of single-gene disorders. Fetal valproate syndrome will only be included in the analysis if specifically requested on the requisition form. Abnormalities detected using this initial screen may require additional targeted testing to confirm and further characterize the underlying genomic abnormality.


This test may be a useful screening tool for patients with developmental delay, or with one or more overlapping features suggestive of one of the represented epigenetic signature conditions or imprinting disorders.


4-6 ml of peripheral blood collected in an EDTA (lavender top) tube is the required specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA or banked is also accepted for this test given the original specimen was whole blood collected in an EDTA tube.


The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.


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