EpiSign Complete

Test Information

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 40 genes and disorders indicated below.  This assay can detect multiple methylation abnormalities associated with certain imprinting or triplet repeat conditions. Abnormalities detected using this initial screen may require additional targeted testing to confirm and further characterize the underlying genomic abnormality.  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.  Click on link for EpiSign Brochure for additional details:

EpiSign Brochure

Turnaround Time

4 weeks

CPT Code(s)

81479

Cost

$1500

Genes

Indications

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.

Methodology

Methylation array

Detection

Methylation abnormalties detected using this test may require additional targeted testing to confirm and further
characterize the underlying genomic abnormality. Females tested for X-linked conditions may have a moderate signature or a potentially false negative. Also, this test will not detect females with Fragile X (FMR1) expansions. Please note that some conditions/genes have been classified as having a more moderate signature based on signature strength, small cohort size, or types of mutations that have been tested. Please click on the link under test information to see a list of conditions with strong and moderate signatures.

Specimen Requirements

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.

Transport Instructions

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.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

EpiSign
Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...

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