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"First Epigenetic Signature Test for Inherited Disorders to Launch in the US, Europe" - Julia Karow

  • Genome Web
  • New York, NY
  • (April 01, 2019)

A new clinical test that identifies disease-specific epigenetic signatures in DNA from blood samples promises to diagnose neurodevelopmental disorders that could not be solved by genetic testing and to replace targeted tests for imprinting disorders. According to the researchers, it is the first test of its kind to become clinically available, though other groups are working on similar assays. In their latest report, the same researchers focused on diagnoses made with epi-signatures after other test technologies such as exome sequencing or microarrays provided no answer or came up with a variant of unknown significance. "The paper shows that one can use this methylation profiling approach to distinguish cases that have pathogenic mutations (even where the exact mutation is not known) from those that carry benign variants," said Andrew Sharp, PhD, associate professor of genetics and genomic sciences at the Icahn School of Medicine at Mount Sinai.

— Andrew J. Sharp, PhD, Associate Professor, Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai

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