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
  • BRWD3
  • CDCA7
  • CHD2
  • CHD7
  • CHD8
  • CREBBP
  • DNMT1
  • DNMT3A
  • DNMT3B
  • EED
  • EHMT1
  • EP300
  • EZH2
  • FAM50A
  • HELLS
  • HIST1H1E
  • KANSL1
  • KAT6A
  • KAT6B
  • KDM2B
  • KDM5C
  • KDM6A
  • KMT2A
  • KMT2D
  • KMT2B
  • KMT5B
  • NIPBL
  • NSD1
  • PHF6
  • PQBP1
  • RAD21
  • SETD1B
  • SETD2
  • SETD5
  • SMARCA2
  • SMARCA4
  • SMARCB1
  • SMC1A
  • SMC3
  • SMS
  • SOX11
  • SRCAP
  • TET3
  • UBE2A
  • YARS2
  • YY1
  • ZBTB24
  • ZNF711

Disorders

Indications

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

Methodology

methylation array

Detection

The listed genes and conditions have undergone a detailed review by Greenwood Diagnostic Labs, and EpiSign has been validated for clinical use. Some conditions/genes have been classified as having a more moderate signature based on signature strength, small cohort size, or types of mutations tested. Click on the link under test information to see a list of conditions with strong and moderate signatures. Females tested for X-linked conditions may have a moderate signature or a potentially false negative result. Also, this test will not detect females with Fragile X (FMR1) expansions. As with many clinical tests, uncertain results are possible. Please note that a normal result does not rule out the possibility that the patient is affected with one of these conditions. In some cases follow-up testing may be suggested to further characterize the underlying genomic abnormality and to confirm or rule out a diagnosis.

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
Falecia Thomas, MS, CGC

Meet the Shenal Family

Our daughter, Ryleigh, was diagnosed with a rare chromosomal deletion shortly after she was born in 2010. Since we received her diagnosis, the Greenwood Genetic Center has become part of our family. They made certain that we did not feel alone, and they continue to provide ongoing, compassionate care for our child. The impact they have had on our family and others across the globe everyday is immeasurable. We can't imagine walking this journey without...

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