SYS-CON MEDIA Authors: Jason Bloomberg, Bob Gourley, Greg Schulz, Don Nelson, Gilad Parann-Nissany

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Ambry Genetics Publishes Data Detailing the Validation and Clinical Performance of the BRCAplus Panel

Ambry Genetics is proud to announce that it has published results illustrating the performance of its custom BRCAplus panel in the peer reviewed journal PLOS ONE, demonstrating best-in-class sensitivity and specificity.

The study assessed the BRCAplus panel, which couples next-generation sequencing with array comparative genomic hybridization, to provide comprehensive mutation analysis in six high-risk genes: BRCA1, BRCA2, PTEN, TP53, CDH1, and STK11. Validation of the BRCAplus assay, with 250 previously characterized samples, resulted in 100% detection of 3,025 known variants and an analytical specificity of 99.999%.

“Ambry was one of the first diagnostic labs to implement next-generation sequencing, and we have leveraged that 7+ years of experience to develop our BRCAplus assay and other custom designed panels with unparalleled sensitivity and specificity,” stated Aaron Elliott, PhD, Vice President of Research and Development. “There are a multitude of technical variables that impact the quality of a diagnostic sequencing test including the target enrichment technology and design, sequencing instrumentation and bioinformatics platform. With the plethora of labs launching NGS based tests, it's important to remember all tests are not created equal.”

Analysis of the clinical performance of the first 3,000 BRCAplus samples referred for testing revealed an average coverage greater than 9,000X per target base pair resulting in excellent specificity and the sensitivity to detect low level mosaicism and limit allele-drop out. The unique design of the assay enabled the detection of pathogenic mutations missed by previous testing.

“Our detection of disease-causing mutations in patients who would have otherwise gone undiagnosed and those who had previously received inaccurate negative results highlights the clinical utility of BRCAplus and its advantages over traditional testing approaches,” stated AJ Stuenkel, MS, CGC, Manager of Cancer Reporting. “These novel techniques allow us to provide answers to even more patients and their families, which is always our ultimate goal.”

About Ambry Genetics:

Ambry Genetics is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified commercial clinical laboratory with headquarters in Orange County, California. Since its founding in 1999, it has become a leader in providing genetic services focused on clinical diagnostics and genomic services, particularly in sequencing and array services. Ambry has established a reputation for unparalleled service and for over a decade has been at the forefront of applying new technologies to the clinical molecular diagnostics market and to the advancement of disease research. To learn more about testing and services available through Ambry, please visit www.ambrygen.com

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