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March 30, 2017

Invitae announces introduction of exome testing

-- Exome testing expands company's menu, offering an important tool for diagnosing a wide array of genetic disorders --
-- Test menu now includes more than 20,000 genes --

SAN FRANCISCO, March 30, 2017 /PRNewswire/ -- Invitae Corporation (NYSE: NVTA), one of the fastest growing genetic information companies, today announced a major expansion of its genetic testing services with the introduction of exome sequencing and interpretation services, bringing the company's available test menu to more than 20,000 genes. The Invitae Boosted Exome offers high-quality testing tailored to each patient's unique clinical situation. Exome testing can help clinicians make or confirm a diagnosis and develop an appropriate medical management plan,which is especially important in pediatric and rare disorders for which early diagnosis is essential.

"Pediatric rare diseases are especially challenging to diagnose and exome testing plays a critical role," said Laurie Demmer, MD, medical geneticist at Levine Children's Specialty Center in Charlotte, NC. "Affordable exome analysis supported by sophisticated informatics can help clinicians shorten the diagnostic odyssey and provide answers for their patients."

Invitae's high-quality exome testing uses next-generation sequencing (NGS) technology to analyze the coding regions, called exons, of up to 20,000 genes. The vast majority of known disease-causing DNA changes are located within exons or in the DNA immediately flanking the exons; Invitae's Boosted Exome assesses such changes with customized bioinformatics and rigorous interpretation in order to pinpoint a genetic diagnosis.

"Exome sequencing is very useful when an individual presents with a complex clinical picture in which a genetic disorder is suspected but the diagnosis is unclear and the gene responsible is unknown. Exome sequencing offers a cost-effective, timely tool to assess large numbers of genes at once, significantly aiding in diagnosis for these patients," said Robert Nussbaum, MD, chief medical officer of Invitae. "In addition to providing a definitive diagnosis for patients who may have undergone other forms of testing without getting a diagnosis, results from exome sequencing can also directly inform medical treatment, determine recurrence risks for patients and family members, and end the need for additional costly or invasive tests and procedures."   

Invitae's exome services provide a customized, in-depth analysis of the human exome that integrates knowledge of a patient's clinical history and presentation with the variants found in their DNA. Results are provided by a team of board-certified molecular geneticists and cytogeneticists with experience in clinical exome and genome sequencing. Features of the test include:

  • Highly advanced next-generation sequencing (NGS) capture technology with boosted coverage of medically relevant genes
  • Custom-built bioinformatics solutions to support variant analysis
  • A phenotyping tool that uses a structured phenotype ontology to generate a list of relevant genes to be prioritized in the analysis; in addition, there is an option for the ordering provider to add additional genes to the list created by the phenotyping tool
  • Analytical solutions to identify other relevant genes through inheritance patterns or impact on gene function
  • Expert interpretation from a team of board-certified geneticists via clearly explained reports
  • Clinical consultation for providers and genetic counseling services for patients are available throughout the process
  • Average turnaround time of 6-8 weeks
  • Very attractive pricing compared to the rest of the industry

"I am so pleased that Invitae is launching exome testing. They have listened to the genetics community and answered the need for a more affordable test backed by experienced medical and bioinformatics teams," said Kristina Cusmano Ozog, MD, a clinical biochemical and molecular geneticist at Children's National Medical Center in Washington, DC. "The transparency in pricing and the high quality we have come to expect from Invitae now provides a compelling option for institutions and their clinicians who use exome sequencing. Invitae has been true to its word and continues to deliver on its commitment to making genetic testing accessible to our patients."                

Invitae's exome services are available via institutional billing or patient pre-pay. To help make testing affordable and accessible, Invitae offers payment plans and a patient assistance program. More information can be found at

About Invitae
Invitae Corporation's (NYSE: NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Invitae's goal is to aggregate most of the world's genetic tests into a single service with higher quality, faster turnaround time, and lower price than many single-gene and panel tests today. The company currently provides a diagnostic service comprising hundreds of genes for a variety of genetic disorders associated with oncology, cardiology, neurology, pediatrics, and other rare disease areas. Additionally, the company has created a Genome Network to connect patients, clinicians, advocacy organizations, researchers, and drug developers to accelerate the understanding, diagnosis, and treatment of hereditary disease. For more information, visit our website at

Safe Harbor Statements
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the company's belief that exome testing can help clinicians make or confirm a diagnosis and develop an appropriate medical management plan for patients. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to:  the company's history of losses; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to develop and commercialize new tests and expand into new markets; the risk that the company may not obtain or maintain sufficient levels of reimbursement for its tests; risks associated with the company's ability to use rapidly changing genetic data to interpret test results accurately, consistently, and quickly; the company's ability to compete; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Annual Report on Form 10-K for the year ended December 31, 2016. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

NOTE: Invitae and the Invitae logo are trademarks of Invitae Corporation. All other trademarks and service marks are the property of their respective owners.

Laura D'Angelo


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SOURCE Invitae Corporation

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