EpiSign Variant
GTR Test Accession: Help GTR000597467.6
INHERITED DISEASESYNDROMIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2022-12-06
Last annual review date for the lab: 2024-04-17 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Koolen-de Vries syndrome; 4p partial monosomy syndrome; 7q11.23 microduplication syndrome; ...
Methylation Status
Molecular Genetics - Methylation analysis: Microarray
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Greenwood Genetic Center Diagnostic Laboratories
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
EpiSign Variant
Lab contact: Help
Robin Fletcher, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
rfletcher@ggc.org
864-388-1055
Kellie Walden, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
kwalden@ggc.org
334-246-3647
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 34
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Methylation analysis
Microarray
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Interpretation performed both in-house and at an outside lab
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house

Test performance comments
Algorithms for interpretting data were acquired from the Molecular Genetics Laboratory in the London Health Sciences Center
Analytical Validity: Help
EpiSign is an assay designed to readily identify proven and reproducible epigenetic signatures by assessing genome-wide methylation. EpiSign Complete is a comprehensive analysis that 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 … View more
View citations (1)
  • Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B. Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. Am J Hum Genet. 2019;104(4):685-700. doi:10.1016/j.ajhg.2019.03.008. Epub 2019 Mar 28. PMID: 30929737.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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