EpiSign Variant

Test Information

EpiSign Variant is a targeted review of the methylation data intended to resolve variants of uncertain clinical significance in genes with a known epigenetic signature (see list below). Pathogenic variants 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. Click on the link below for the EpiSign Brochure for additional details and the full list of disorders:

EpiSign Brochure

Turnaround Time

4 weeks

CPT Code(s)

81479

Cost

$1,200

Genes

  • ADNP
  • ARID1A
  • ARID1B
  • ATRX
  • CHD2
  • CHD7
  • CREBBP
  • DNMT1
  • EED
  • EHMT1
  • EP300
  • EZH2
  • HIST1H1E
  • KANSL1
  • KAT6B
  • KDM5C
  • KDM6A
  • KMT2A
  • KMT2D
  • NIPBL
  • NSD1
  • RAD21
  • SETD1B
  • SMARCA2
  • SMARCA4
  • SMARCB1
  • SMC1A
  • SMC3
  • SRCAP
  • UBE2A

Indications

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

Methodology

methylation array

Associated Tests

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

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