Ambry Genetics RNA Testing Increases Diagnostic Clarity for Genetic Variants

A study published in *Genetics in Medicine Open* reports that Ambry Genetics’ ExomeReveal® RNA testing increases diagnostic clarity when used alongside standard exome sequencing. The research indicates that integrating RNA analysis helps clinicians identify genetic variants that traditional DNA-only testing often misses or leaves as inconclusive.

The study evaluated the clinical utility of adding RNA-based testing to the diagnostic workflow for patients with suspected genetic conditions. Researchers found that the ExomeReveal® platform provides additional functional evidence by analyzing how genetic variants affect gene expression and splicing. By capturing these molecular changes, the test assists laboratories in reclassifying variants of uncertain significance into definitive diagnoses. This approach aims to reduce the number of inconclusive results, providing patients and healthcare providers with more actionable information regarding underlying genetic disorders.

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Source: GO-AI-ne1

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Date: June 9, 2026

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GOAI