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Invitae, BioMarin Partner on Access to Genetic Testing for Skeletal Dysplasias

NEW YORK – Invitae today announced a partnership with BioMarin Pharmaceuticals on a program to expand access to genetic testing for skeletal dysplasias. 

The companies have launched Discover Dysplasias to offer genetic testing at no charge to patients who show signs or symptoms of having a skeletal dysplasia. These rare, mostly genetic disorders, of which there are hundreds of types, affect bones and joints.

Under the program, Invitae will offer genetic testing for 109 genes associated with skeletal dysplasia, as well as no-charge genetic counseling. BioMarin will provide financial support to make testing free of charge to patients who elect to participate.

Financial and other details of the program were not disclosed.

"If left untreated, patients can experience a variety of serious consequences, such as developmental delay, as well as serious spinal and joint problems," Invitae CMO Robert Nussbaum said in a statement. "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."

Discover Dysplasias is the second testing program the firms have collaborated on. They also created Behind the Seizure, a genetic testing program for children with epilepsy. 

The new program is available to healthcare providers in the US to order testing for patients with signs or symptoms of skeletal dysplasia. 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.

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