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December 11, 2013

Invitae Offers BRCA1/BRCA2 Testing, Providing Clinicians with a Reliable, Fast, Affordable Option for Patients

SAN ANTONIO, December 11, 2013 – Invitae Corporation, a genetic diagnostics company, today announced at the 2013 San Antonio Breast Cancer Symposium that it now offers BRCA1 and BRCA2 testing globally, providing clinicians with a reliable, fast and affordable option for their cancer patients.  Available with a turnaround time of just two weeks, this test includes full gene sequencing for both BRCA1 and BRCA2, as well as deletion/duplication analysis.  The test is globally available and is priced at $1,500 in the United States.

Additionally, Invitae enables the ordering clinician to look beyond BRCA to understand additional risk factors for hereditary cancer by offering them the opportunity to upgrade to larger hereditary cancer panels at no additional cost and with the same two-week turnaround time.  The BRCA genes were the first to be associated with hereditary breast and ovarian cancer; however, there are several other genes that contribute to the risk of breast cancer that may be part of a patient’s clinical story. Panels include the following:

○    Women’s high risk breast cancer panel (6 genes)

○    Women’s hereditary cancer panel includes genes associated with hereditary breast, ovarian and endometrial cancer (18 genes)

○    Hereditary cancer syndromes panel (29 genes)

Additional hereditary cancer panels are available, including testing for Lynch Syndrome and colon cancers.

“Invitae’s approach to genetic testing is a revolutionary one that can dramatically transform patient care globally by getting more answers to patients faster and thus reducing the need for sequential testing,” said Dr. Eitan Friedman, director of the oncogenetics unit at the Sheba Medical Center in Tel-Aviv, Israel.  “There’s a real need for more affordable, high quality, multi-gene panels, and I believe this approach will offer clinicians around the world important new tools to help their cancer patients.”

High Quality Genetic Testing, Concordant Results with Industry Standards

To demonstrate the tests’ reliability, Invitae collaborated with two leading clinical centers to test more than 600 patient samples previously tested for BRCA1 and BRCA2.  Their results showed 100% analytical concordance and 99.8% clinical concordance when compared to test results from another commercial BRCA testing laboratory.  The VUS (variant of unknown significance) rate was determined to be approximately 6%.  Invitae expects that this rate will continue to lower with the collection of additional data.   

“Our mission is to reinvent genetic testing by making it more affordable and accessible than ever before.  Providing clinicians and their patients with a reliable, fast, affordable option for BRCA1/2 testing, along with the option to upgrade to a hereditary cancer panel at no additional cost, is just the beginning of what we plan to accomplish at Invitae,” said Randy Scott, Ph.D., co-founder and chief executive officer of Invitae.  “Importantly, we believe that for genetic testing to be beneficial, it must provide clinically relevant and actionable data, and our approach enables that.”

About Invitae Corporation

Invitae hopes to lead the way from an era of genetic scarcity to genetic abundance to significantly improve healthcare worldwide.  Specializing in genetic diagnostics for hereditary disorders, Invitae's mission is to make multi-gene diagnostic testing more accessible and affordable than ever before.

The company is pursuing a strategy over the next several years to aggregate all the world's medical genetic tests (>3,000 known Mendelian inherited conditions) into a single assay at a lower cost than most single gene tests today.  This capability is increasingly enabled by the rapid advancements in DNA sequencing technology.

Invitae has raised $87 million from investors, including Thomas McNerney Partners, Casdin Capital, Genesys Capital, Genomic Health, Inc. (NASDAQ: GHDX), Redmile Group, and Randy Scott. 

For further information, please visit


Katherine Stueland


Paul Laland



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