Our Test
EpiSign Complete
A comprehensive screening assay able to identify a continuously expanding list of validated conditions. Conditions List
EpiSign Variant
Targeted assay to help resolve variants of unknown significance with an ever expanding list of conditions. Conditions List
EpiSign Knowledge Database
EpiSign uses machine learning-based algorithms to compare patient’s peripheral blood DNA methylation to the EpiSign Knowledge Database, which contains thousands of references samples.
EpiSign, developed by Dr. Sadikovic and his research group, is the first clinically validated test designed to analyze genomic DNA methylation for diagnosis of genetic neurodevelopmental disorders. It uses machine learning-based algorithms to compare patient’s peripheral blood DNA methylation to the EpiSign Knowledge Database. The EpiSign Knowledge Database contains thousands of reference samples including a growing list of genetic conditions involving genetic developmental and intellectual delay and disabilities.
The EpiSign Knowledge Database can be utilized by healthcare providers to determine if their patient may have a detectable episignature. Register for use of the EpiSign Knowledge Database to gain access to the largest whole genome methylation database for rare genetic disorders.
How it works
Leveraging cost-effective microarray technology for assessment of whole genome methylation patterns, EpiSign offers an alternative to current genetic testing modalities that often do not provide a definitive genetic diagnosis. Utilizing peripheral blood, patients methylation data is screened to determine if they possess a similar episignature to a defined episignature within the EpiSign Knowledge Database.
Episignature: a recurring and reproducible DNA methylation pattern, or biomarker, associated with a specific genetic disorder.
Episignatures provide highly sensitive and specific screening and impart a clear path for patient / family support and syndrome management. When episignatures are not identified, rule out of more than 70 conditions associated with nearly 75 genes or genetic regions guides future analysis in a more targeted, cost-effective and timely manner. EpiSign also solves ambiguous cases for patients clinically diagnosed with a variety of syndromes. Patients who present with genetic sequence variants of unknown significance (VUS) are analyzed for epigenetic signatures that enable categorization of the syndrome. EpiSign is a novel solution supporting patients, families and geneticists with answers that allow them to move forward with tailored patient care.
