PerkinElmer and BioMarin Collaborate to Enable Diagnostic Testing for Rare Diseases in Mexico

PerkinElmer and BioMarin Collaborate to Enable Diagnostic Testing for Rare Diseases in Mexico

October 14, 2020 at 9:00 AM EDT

Expands access to no charge diagnostic genetic testing for Batten disease and Mucopolysaccharidosis disorders

WHAT: PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today announced that BioMarin has selected the Company to provide testing support for its Sponsored Testing Program for patients in Mexico. BioMarin is a biopharmaceutical leader in developing and commercializing innovative biopharmaceuticals for rare diseases driven by genetic causes.

HOW: The Sponsored Testing Program is designed to help patients and physicians in their diagnostic journey by providing tests for the identification of MPS IVA, MPS VI and CLN2. Through the collaboration, PerkinElmer Genomics will offer biochemical and molecular genetic testing to patients throughout Mexico suspected of having Batten disease or a Mucopolysaccharidosis (MPS) condition, funded by BioMarin. All eligible patients enrolled in the program will receive biochemical screening followed by confirmatory molecular genetic testing, as needed. All testing will be performed utilizing dried blood spots, an easy-to-collect sample type designed to further increase access to testing.

WHY: “We fight every day to improve health care quality and diagnostics tests are very important for meeting this goal. This collaboration in Mexico with PerkinElmer Genomics will make a big impact on those inflicted with Batten or MPS disorders, and is crucial for our testing program,” said Eduardo Franco, MD, MSc, Senior Medical Director for Latin America, BioMarin.

“Our collaboration with BioMarin provides another valuable avenue for patients throughout Mexico with suspected Batten disease or an MPS condition to achieve a clinical diagnosis,” said Dr. Madhuri Hegde, Ph.D., FACMG, chief scientific officer, PerkinElmer Genomics. “This program continues PerkinElmer Genomics’ mission of bringing high quality and accessible testing options to patients around the globe.”

MORE: PerkinElmer Genomics combines newborn screening with a full-service genomic laboratory, offering one of the most comprehensive programs globally for detecting clinically significant genomic changes. With its integrated network of high throughput laboratories in the U.S., India, Malaysia, and China, PerkinElmer Genomics maintains one of the largest databases of known genetic variations from different ancestries worldwide.

About PerkinElmer

PerkinElmer enables scientists, researchers, and clinicians to address their most critical challenges across science and healthcare. With a mission focused on innovating for a healthier world, we deliver unique solutions to serve the diagnostics, life sciences, food, and applied markets. We strategically partner with customers to enable earlier and more accurate insights supported by deep market knowledge and technical expertise. Our dedicated team of about 13,000 employees worldwide is passionate about helping customers work to create healthier families, improve the quality of life, and sustain the wellbeing and longevity of people globally. The Company reported revenue of approximately $2.9 billion in 2019, serves customers in 190 countries, and is a component of the S&P 500 index. Additional information is available through 1-877-PKI-NYSE, or at

About BioMarin

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


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