EpiSign Variant

Test Information

EpiSign Variant is a targeted review of the methylation data intended to resolve variants of uncertain clinical signficance in genes with a known epigenetic signature (see list below). Pathogenic varients in these genes have an established unique signature. When present, this signature can be used to provide supporting evidence during variant classification of a VUS. 

Turnaround Time

4 weeks

CPT Code(s)

81479

Cost

$1200

Indications

Patients with a VUS in one of the genes with an established epigenetic signature are good candidates for this analysis.

Methodology

methylation array

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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