Stamford-headquartered GeneDx (NASDAQ: WGS) has announced the availability of its GenomeXpress and GenomeSeqDx whole genome sequencing tests with buccal swabs as an alternative sample collection option for biological parents or other immediate family members.
According to the company, GenomeSeqDx and GenomeXpress are clinical whole genome tests that include evaluation and analysis of both the protein-coding and non-coding regions of the human nuclear genome, allowing for the broadest potential detection of characterized/pathogenic variants contributing to the molecular basis of a genetic disorder in an affected individual. Detecting and characterizing variants that may contribute to the molecular basis of a genetic disorder is most effective when at least one or both biological parents are included in the analysis.
Buccal swabs provide a non-invasive method for collecting DNA from cells found inside a person”™s cheek. In the case of trio testing, the diagnostic yield for positively identifying a disease-causing variant can increase from 19% to 30%. In addition to its whole genome sequencing tests, GeneDx also makes buccal swab available as an alternative DNA collection method for its XomeDx and XomeDxXpress whole exome sequencing tests for patients and biological parent samples.
“We are continuously looking for ways to broaden adoption of genome sequencing and facilitate convenient access to families to aid in disease diagnosis,” said Dr. Paul Kruszka, chief medical officer at GeneDx. “Research shows diagnostic rates are highest when we can include genomic data of biological parents to classify variants of unknown significance based on inheritance patterns. Adding buccal swab as an additional sample collection method for our GenomeSeqDx and GenomeXpress whole genome sequencing tests can make it easier for providers to collect parent samples for trio testing.”
