Ambry Genetics Launches FFPE Somatic Variant Profiling Services Developed in Collaboration with Illumina

Posted: April 5, 2013 at 12:42 am

ALISO VIEJO, Calif.--(BUSINESS WIRE)--

Ambry Genetics announced today that they have launched a somatic variant detection service, developed in collaboration with Illumina. This service complements Ambrys 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 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.

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.

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 Illuminas 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.

About Ambry Genetics

Ambry Genetics is a CAP-accredited and CLIA-certified commercial clinical laboratory with headquarters in Aliso Viejo, California. Since the company's inception in 1999, it has become a leader in providing genetic services focused on clinical diagnostics and genomic services, particularly sequencing and array services. Ambry has established a solid reputation for unparalleled service and has been at the forefront of applying new target enrichment and next-gen sequencing technologies to the clinical molecular diagnostics market and to the advancement of disease research. To learn more about testing and services available through Ambry Genetics, visit http://www.ambrygen.com.

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Ambry Genetics Launches FFPE Somatic Variant Profiling Services Developed in Collaboration with Illumina

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