Ambry Genetics has launched a somatic variant detection service, 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 since 2007, including a commercial diagnostic test utilizing next-generation sequencing with its 81 gene XLID panel, as well as clinical exome sequencing. Ambry has developed a somatic cancer panel that can detect the lowest 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,” says 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.
“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,” says 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.” Learn more about testing and services available through Ambry Genetics.
