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Invitae announces expansion of its genetic testing offering to include unique test for Spinal Muscular Atrophy (SMA) during the 2017 ACMG Annual Clinical Genetics Meeting

SAN FRANCISCO, March 22, 2017 /PRNewswire/ -- Invitae Corporation (NYSE: NVTA), one of the fastest growing genetic information companies, today announced the availability of a new genetic test for the diagnosis of Spinal Muscular Atrophy (SMA), a neuromuscular disease that is one of the leading lethal genetic disorders among infants as well as a significant cause of progressive neuromuscular disease in childhood. The new test, announced during the American College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting, features a novel, custom methodology that offers significant improvements over current testing approaches.

SMA is an autosomal recessive disorder and the second leading genetic disease in infancy behind cystic fibrosis affects. SMA affects approximately one in every 10,000 infants, while one in 50 people is a carrier for the disorder. The majority of SMA cases are caused by loss of the gene SMN1, with variation in the number of copies of related gene, SMN2, playing a role in mitigating the severity of the disease. Loss of SMN1 results in the absence of a protein necessary for the normal function of nerves governing movement. Without adequate nerve function, patients with SMA experience progressive muscle weakness and atrophy, impacting the ability to crawl, sit, or stand and eventually to breathe or swallow.

Accurate testing of both genes is critical for the diagnosis and treatment of SMA. Testing for the absence of functional SMN1 is the basis of diagnosis and can distinguish the condition from other neuromuscular diseases such as muscular dystrophy. Understanding the number of copies of the SMN2 gene can provide prognostic information and help guide therapeutic choices and clinical trial participation. However, due to the similarities between the two genes, testing is technically challenging and reliably accurate tests have not previously been widely available.

"Determining SMN2 copy number accurately has, in the past, been a challenge. Improvement in the SMN2 copy number assay will provide better diagnostic and prognostic information about SMA patients that will guide clinicians with appropriate disease management," said Perry Shieh, MD, associate professor and director of the neuromuscular program at the University of California Los Angeles.

Invitae's unique approach leverages advanced next generation sequencing and a customized bioinformatics solution to accurately identify sequence changes and copy number changes in both genes from a single test. Analysis of SMN1 and SMN2 is now available from Invitae as a stand-alone test, and it has been added to a number of the company's comprehensive neuromuscular and neuropathy panels, allowing physicians the ability to test for SMA alongside a number of other neurological disorders for no additional cost.

"In addition to the use of the Invitae SMA test in the diagnosis of infants and children with early onset neuromuscular disease, the recent development of new therapies directed at SMA is leading to the possible inclusion of SMN1 testing in universal newborn screening panels, which will mean in turn that having an accurate, cost-effective confirmatory test is essential," said Robert Nussbaum, MD, chief medical officer at Invitae. "We're proud to bring this advancement in testing to the SMA community."

Affordable, transparent pricing
The new SMA test will be provided at the same pricing as all other Invitae tests. Invitae offers a transparent pricing structure independent of the number of genes required to provide an accurate diagnosis within a single clinical area. Invitae has secured in-network status with the major national health insurance payers. For third-party payers with whom Invitae is out-of-network and for non-contracted institutions, the price per test in a clinical area is $1,500. In addition, for patients without insurance coverage or who do not meet insurance criteria for coverage, Invitae offers its full test offerings for $475 per test in a clinical area.

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 its new genetic test for the diagnosis of Spinal Muscular Atrophy (SMA) offers significant improvements over current testing approaches, which will provide better diagnostic and prognostic information about SMA patients that will guide clinicians with appropriate disease management; and that the new therapies directed at SMA is leading to the possible inclusion of the testing of the gene SMN1 in universal newborn screening panels, which in turn will mean that having an accurate, cost-effective confirmatory test is essential. 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; 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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