Ambry Genetics launched a somatic variant detection service, developed in collaboration with Illumina. This service complements Ambry’s menu of next-generation sequencing services and portfolio of diagnostic genetic testing panels for hereditary cancers.
The company has offered next-generation sequencing services since 2007. It launched a commercial diagnostic test utilizing next-generation sequencing with its 81 gene XLID panel and offered clinical exome sequencing. According to Ambry, it has developed a somatic cancer panel that can detect a low level allele frequency with a high level of specificity.
“Utilizing a novel target enrichment strategy, we are able to detect below 3% minor allele frequency with very high confidence,” said Dr. Aaron Elliott, director of R&D at Ambry Genetics. “We have optimized every step of the process from QC to bioinformatics to virtually eliminate false positives which are a common problem for FFPE samples in current panels.”
The offering is focused on clinically actionable mutations implicated in solid tumors with a focus on lung, colon, melanoma, gastric, and ovarian cancers. The assay covers relevant hotspot regions of 26 genes, including deep sequencing of several genes such as TP53.
“Expanding into somatic mutation detection is a key step to grow our business,” said Ardy Arianpour, vp of business development at Ambry Genetics. “We have had several top pharmaceutical clients test the product and are extremely happy with the data, we look to further develop the offering and move it into our clinical diagnostics menu this year.”
“Our understanding of cancer is rapidly evolving through a better understanding of genomics,” said Greg Heath, svp and GM of Illumina’s diagnostics business. “Partnering with leaders in next-generation sequencing services enables us to build better targeted sequencing solutions that fit the needs of service providers. Bringing services to the clinical research market will help to further evolve our understanding of cancer and ultimately lead to better diagnostic tools.”