Fulgent Genetics, Inc, a technology-based company with a well-established clinical diagnostic business and a therapeutic development business, announced the immediate availability of their new Beacon787 expanded carrier screening panel. Beacon787 will include a total of 787 genes associated with autosomal recessive and X-linked conditions. Included in this panel are all of the American College of Medical Genetics and Genomics (ACMG) tier 3 genes, which ACMG published in their latest practice guideline for carrier screening, recommending that all pregnant patients and those planning a pregnancy be offered this set of genes as an equitable, pan-ethnic screening approach.
“This is an important product launch for our company and a big step forward in carrier screening,” said Brandon Perthuis, Fulgent’s Chief Commercial Officer. “With our technology platform, we can offer this complex panel while still delivering a rapid turnaround time. For clinicians and patients looking for the most comprehensive carrier test, Beacon787 is a great option. With many couples now testing in tandem, we can quickly return results on both partners, identifying scenarios of high-risk versus low-risk. We are proud to lead the way in carrier screening development and look forward to helping our patients and their providers with their reproductive testing needs.”
Fulgent’s optimized workflow for variants with pseudogene interference has been validated and externally published as a method for analysis of genes with pseudogene interference and/or sequence homology issues, allowing for improved testing accuracy. This method also optimizes the turnaround time and reduces the need for unnecessary confirmatory testing to identify point mutations, copy number variants, and gene conversion events in genes with pseudogene interference that other labs may not be able to detect. Using this pipeline, Fulgent can quickly distinguish positive and negative cases with NGS sequence misalignment and avoid testing delays due to redundant confirmatory testing. In contrast, most bioinformatics methods do not discriminate genomic regions with extensive sequence homology, which can lead to false negative or false positive variant calls, and/or produce incorrect copy number calls due to misalignment of reads. Fulgent’s bioinformatics algorithms compare read depth between homologous regions to identify sequence misalignment.
SOURCE: Businesswire