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December 10, 2019

Invitae Announces Program with BioMarin to Expand Access to Genetic Testing for Skeletal Dysplasias

-Genetic testing can identify causes of rare disorders that affect bone growth and development in children-

SAN FRANCISCO, Dec. 10, 2019 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, today announced the launch of Discover Dysplasias™, an initiative with BioMarin Pharmaceutical to offer genetic testing at no charge to patients who show signs or symptoms of having a skeletal dysplasia, a group of rare, mostly genetic disorders that affect bones and joints and impact growth and development in children.

Invitae's (NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. (PRNewsFoto/Invitae Corporation)

"There are hundreds of different types of skeletal dysplasia, many with similar clinical features. If left untreated, patients can experience a variety of serious consequences, such as developmental delay, as well as serious spinal and joint problems," said Robert Nussbaum, M.D., chief medical officer of Invitae. "By identifying the genetic cause of the disease earlier, clinicians can get children on a treatment plan specific to their precise condition sooner, which could help avoid or delay the most serious consequences of the disease. We are pleased to collaborate with BioMarin on this program to increase access to genetic testing for patients."

In some cases, signs are noticeable at birth, while more serious symptoms may not develop until later in childhood. Children with skeletal dysplasia may exhibit:

  • Short stature and/or slow rate of growth
  • Disproportionately large head or forehead
  • Disproportionately short arms or legs
  • Joint stiffness, pain or arthritis
  • Bowlegs or scoliosis
  • Cleft palate
  • Delayed developmental milestones, such as late walking

Skeletal dysplasias are typically diagnosed based on symptoms, clinician observation and diagnostic imaging. Genetic testing can provide a specific diagnosis and, in some cases, may help put patients on the path to disease-specific management sooner. BioMarin and Invitae are committed to helping shorten the diagnostic odyssey for patients and families living with skeletal dysplasias.

The Discover Dysplasias™ program is available to healthcare providers in the United States who can use the program to order testing for patients with signs or symptoms suggestive of or consistent with a diagnosis of skeletal dysplasia. Invitae is offering genetic testing for 109 genes associated with skeletal dysplasia, as well as no-charge genetic counseling to help clinicians, patients and their families understand the results. To be eligible, patients must have one of the following: skeletal abnormalities suggestive of skeletal dysplasia, short stature, disproportionate growth, dysmorphic facial features or other signs or symptoms suggestive of a skeletal dysplasia.

BioMarin provides financial support for this program to enable testing to be available at no charge to patients who elect to participate, subject to the terms and conditions of the program. Discover Dysplasias™ is BioMarin and Invitae's second program together. The companies also created Behind the Seizure®, a program that expands access to genetic testing for children with epilepsy.

Additional details and terms and conditions of the program are available for healthcare providers at

Invitae sponsored testing programs are designed to increase access to genetic testing, particularly in conditions where earlier testing can improve diagnosis and treatment yet testing remains underutilized. The company has programs for patients suspected of having a variety of rare and neurological disorders. Learn more at

About BioMarin

BioMarin is a global biotechnology company that develops and commercializes innovative therapies for serious and life-threatening rare genetic diseases. The Company's portfolio consists of seven commercialized products and multiple clinical and pre-clinical product candidates. For additional information, please visit

About Invitae
Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at

Safe Harbor Statement
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the benefits of genetic testing and the Discover Dysplasias™ program. 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 ability to compete; the company's failure to manage growth effectively; 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 use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; 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 Quarterly Report on Form 10-Q for the quarter ended September 30, 2019. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Laura D'Angelo
(628) 213-3283


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