Healthcare services provider Ambry Genetics has launched paired RNA and DNA testing for hereditary cancer.
The +RNAinsight test will screen the RNA transcript for 18 genes, including BRCA genes.
It works in tandem with Ambry Genetics’ DNA testing to identify patients with or at-risk of hereditary cancer who might otherwise go undiagnosed.
The Paired DNA and RNA testing will improve variant detection and classification, lower variants of unknown significance in real-time and provide accurate results to inform patient care.
Ambry said a prospective analysis of the first 2,500 patients tested with paired RNA and DNA hereditary cancer for up to 18 genes, sent from pilot clinical sites, led to an increase in the diagnostic yield of around 7%.
The +RNAinsight test, available through doctors and genetic counsellors across the US, decreased the number of inconclusive results across the included cancer risk genes by about 5% relative to DNA testing alone.
Tests such as +RNAinsight require 1 PAXgene blood tube for RNA analysis and purple top (EDTA) tube for DNA testing.
Ambry Genetics CEO Aaron Elliott said: “We developed paired RNA and DNA testing to provide more accurate and conclusive results that patients and doctors can act on.
“With +RNAinsight, we not only identify mutations that DNA testing alone would miss, we also provide answers for patients who have been dealing with inconclusive results for years.”
Earlier this year, Ambry Genetics presented a study to demonstrate that RNA genetic testing (RGT) in hereditary cancer improves variant classification and patient management.
Study findings suggest that RGT will impact medical management in at least 1 in 50 patients who have first undergone DNA genetic testing.