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Ambry Genetics Publishes Data Supporting Use of Hereditary Cancer Panel Testing

Companies mentioned in this article: Ambry Genetics

ALISO VIEJO, Calif. -- (BUSINESS WIRE) -- Ambry Genetics announced the publication of the highly anticipated results on the first 2000 patients tested, in the journal Genetics in Medicine, supporting the clinical adoption of multigene cancer panels in the diagnosis of hereditary cancer predisposition.

The study evaluated the first 2,079 patients who underwent Ambry’s hereditary cancer multigene panel testing. Tests included a comprehensive analysis of 14-22 cancer susceptibility genes based on the panel ordered (BreastNextTM, OvaNextTM, ColoNextTM or CancerNextTM). This study identified positive test results in up to 9.6% of patients, with the majority of positive results correlating with clinical histories in affected patients. Interestingly, 30% of ColoNext patients with mutations in genes with well-established diagnostic criteria did not meet clinical criteria for the corresponding hereditary condition and would have eluded diagnosis by conventional methodologies.

“We’re thrilled to have an opportunity to share data from our cancer panel testing and hope clinicians find the information beneficial. We look forward to continuing our data sharing and research efforts,” said Holly LaDuca, Cancer Research Coordinator.

Results from this study point to an important role for targeted multigene panels in diagnosing hereditary cancer predisposition, particularly for patients with clinical histories spanning several possible diagnoses and for patients with suspicious clinical histories not meeting diagnostic criteria for a specific hereditary cancer syndrome. Full text article available at:

“Through multigene testing for hereditary cancer we are diagnosing families whose personal and family history has not classically brought them to the attention of clinicians, ultimately leading to opportunities to intervene early to prevent or treat cancer,” explains Elizabeth Chao, MD, Chief Medical Officer.

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

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Ambry Genetics
Humberto Huerta
VP of Commercial Diagnostic Development