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GTR Home > Tests > EPISign Whole Genome Methylation Assay

Overview

Test order codeHelp: https://www.lhsc.on.ca/palm/docs/EpiSign_Whole_Genome_Methylatio

Test name

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EPISign Whole Genome Methylation Assay (EPISign)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Risk Assessment, Screening

Condition

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Click Indication tab for more information.

How to order

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Complete and physician signed requisition required with pedigree and clear clinical diagnosis. Requisition available on lab website if required. Please draw 4-10ml EDTA whole blood and ship by overnight courier to the lab address (weekdays only)
Order URL Help: http://www.lhsc.on.ca/palm/molecular/requisitions.html#main-content

Specimen source

Amniocytes
Amniotic fluid
Bone marrow
Cell culture
Cell-free DNA
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Paraffin block
Peripheral (whole) blood
Urine
White blood cell prep

Methodology

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Molecular Genetics
MMethylation analysis
Microarray
  • Illumina HiScanâ„¢SQ system

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Citations
  • Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. - PubMed ID: 30929737

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously, comments
  • Confirmation of research findings, comments
  • Custom Deletion/Duplication Testing, comments
  • Maternal cell contamination study (MCC), comments
  • Custom mutation-specific/Carrier testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.