Ambry Genetics, a CAP-accredited and CLIA-certified commercial clinical laboratory, has launched a somatic variant detection service, which was developed in collaboration with Illumina. This service complements Ambry’s extensive menu of next-generation sequencing services and portfolio of diagnostic genetic testing panels for hereditary cancers.

Ambry Genetics has offered next-generation sequencing services and has been at the forefront of establishing the technology as a diagnostic tool. Ambry was the first to launch a commercial diagnostic test utilizing next-generation sequencing with their 81 gene XLID panel, as well as the first to offer clinical exome sequencing. Leveraging years of experience, Ambry has developed a somatic cancer panel that can detect the lowest level allele frequency with the highest level of specificity available today.

“Utilising a novel target enrichment strategy, we are able to detect below three per cent 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.”

This 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, vice president 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. Partnering with leaders in next-generation sequencing services enables us to build better targeted sequencing solutions that fit the needs of service providers,” said Greg Heath, senior vice president and general manager of Illumina’s Diagnostics business. “Bringing services to the clinical research market will help to further evolve our understanding of cancer and ultimately lead to better diagnostic tools.”