Performance Characteristics
- Entire test performed in-house
. 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 varients 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
PMID:30929737
- Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. - PubMed ID:
30929737
. 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 varients 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
By applying this model to a cohort of 965 ND/CA-affected subjects without a previous diagnostic assumption and a separate assessment of rare epi-variants in this cohort, we identify 15 case subjects with syndromic Mendelian disorders, 12 case subjects with imprinting and trinucleotide repeat expansion disorders, as well as 106 case subjects with rare epi-variants, a portion of which involved genes clinically or functionally linked to the subjects' phenotypes. This study demonstrates that genomic DNA methylation analysis can facilitate the molecular diagnosis of unresolved clinical cases and highlights the potential value of epigenomic testing in the routine clinical assessment of ND/CAs.
- Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. - PubMed ID:
30929737
Proficiency Testing (PT)
- Is proficiency testing performed for this test?
HelpWhether the test undergoes periodic internal or external evaluation of the accuracy of test results. Lab-provided.
- No
- PT Description
- An extensive published validation process ensures proficiency at the outset. Mutation confirmation provides proficiency evidence in real time.
- FDA Category Designation
- Not Applicable
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