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Free Mitochondrial Disease Genetic Testing Program Established by Zogenix, Others

NEW YORK – Biopharmaceutical company Zogenix announced on Tuesday that it is sponsoring a free genetic testing program with the United Mitochondrial Disease Foundation and Probably Genetic for diagnosing suspected mitochondrial disease.

Financial and other terms of the partnership were not disclosed.

The UMDF Pilot Genetic Testing Project is intended to help patients get a confirmed genetic diagnosis of mitochondrial disease and is available for any patient in the US with suspected mitochondrial disease. 

The program will be patient initiated and patients must fill out an online symptom questionnaire, Zogenix said in a statement. If eligible, the patient is mailed a testing kit from Probably Genetic and performs the saliva-based test at home. Genetic counseling is available to patients and their families and caregivers once the results are in, Zogenix said.

Zogenix said the program will include testing for the TK2 gene, which leads to thymidine kinase 2 deficiency, a genetic disorder that causes progressive and severe muscle weakness. Zogenix is currently studying MT1621, a late-stage therapy for treatment of the disease. The firm also supports a TK2d-specific genetic testing program through Exact Sciences subsidiary PreventionGenetics.

"Because mitochondrial diseases affect various organs and tissues, the path to diagnosis can be challenging and long," Bradley Galer, executive VP and chief medical officer at Zogenix, said in a statement. "We are proud to offer no-cost genetic testing to help expand access to these much needed genetic tests to shorten the diagnostic journey and help patients and their families seek appropriate care."

Zogenix also recently partnered with Invitae on its free genetic testing program Detect Muscular Dystrophy.