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 50 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 the link for EpiSign Brochure for additional details and the full list of disorders:

EpiSign Brochure

Turnaround Time

4 weeks

CPT Code(s)

81479

Cost

$1,500

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

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

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 Jones Family

The journey to becoming parents did not start as an easy one for my husband and I. We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child. Our son, sweet 1 lb 1.4 ounce, 12 inches long, teeny, tiny little Joseph “Hamilton” Jones was born with spina bifida, hydrocephalus, and a heart defect. It tore our hearts out leaving the hospital without him, knowing our dreams and hope for the future were shattered....

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