WALTHAM, Mass.–(BUSINESS WIRE)–PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today announced that Parent Project Muscular Dystrophy (PPMD) has selected the Company to provide genetic testing for its Decode Duchenne program.
“We are also grateful to our sponsors, Sarepta Therapeutics and PTC Therapeutics. Decode Duchenne plays an important role in our community, helping us support families who otherwise may not have access to not only genetic testing, but the interpretation of these results.”
Duchenne muscular dystrophy (Duchenne) is the most common genetic disorder diagnosed in childhood, affecting approximately 1 in every 5,000 live male births (about 20,000 new cases each year worldwide). Because the Duchenne gene is found on the X-chromosome, it primarily affects males; however, there are symptomatic females. Duchenne affects all races.
Decode Duchenne, administered by DuchenneConnect (a program of PPMD), provides no cost genetic testing and counseling to people with Duchenne who otherwise could not afford genetic testing.
PerkinElmer Genomics is providing the genetic testing for Decode Duchenne. These capabilities include comprehensive analysis by full gene sequencing of the entire 2.2MB region of the Duchenne gene. This new comprehensive assay would not only pick up sequence variants but also provide base pair resolution of deletions and duplications mutations within the Duchenne gene. Individuals with a negative gene targeted Duchenne assay can access a 131 gene panel targeting neuromuscular disorders, with an opportunity to receive full whole exome testing. PerkinElmer Genomics will also offer carrier testing, along with support for families.
“Genomics is a complex, largely uncharted landscape, and healthcare providers and families, such as those dealing with Duchenne, continually strive to unlock critical information held within our DNA as they face difficult medical situations,” said Dr. Madhuri Hegde, vice president and chief scientific officer for laboratory services of PerkinElmer’s Diagnostics business group. “PerkinElmer Genomics provides one of the world’s most comprehensive programs for detecting clinically significant genomic changes. High-quality, fast, affordable results deliver clinicians and patients the answers they need to determine their path forward.”
“PPMD is excited to continue our relationship with Dr. Hegde and to partner with a company like PerkinElmer, with such an outstanding reputation and long history in genetic analysis,” said Pat Furlong, Founding President and CEO, PPMD. “We are also grateful to our sponsors, Sarepta Therapeutics and PTC Therapeutics. Decode Duchenne plays an important role in our community, helping us support families who otherwise may not have access to not only genetic testing, but the interpretation of these results.”
PerkinElmer Genomics has two state-of-the-art CLIA and CAP-certified clinical laboratories based in Pittsburgh, PA and Branford, CT that process more than 500,000 samples a year. Its testing menus include newborn screening, biochemical profiling, 2nd tier molecular confirmatory testing, Sanger and NGS-based panels, and clinical exome and genome sequencing services.
Through its integrated laboratories in the U.S., India and China, PerkinElmer offers a global genomic lab testing platform that performs screening and diagnostic testing, specializing in newborn screening and high throughput next generation sequencing for rare inherited diseases. For more information, please visit www.perkinelmergenomics.com.
PerkinElmer, Inc. is a global leader committed to innovating for a healthier world. Our dedicated team of about 11,000 employees worldwide is passionate about providing customers with an unmatched experience as they help solve critical issues especially impacting the diagnostics, discovery and analytical solutions markets. Our innovative detection, imaging, informatics and service capabilities, combined with deep market knowledge and expertise, help customers gain earlier and more accurate insights to improve lives and the world around us. The Company reported revenue of approximately $2.3 billion in 2017, serves customers in more than 150 countries, and is a component of the S&P 500 Index. Additional information is available through 1-877-PKI-NYSE, or at www.perkinelmer.com
Parent Project Muscular Dystrophy (PPMD) is the largest most comprehensive nonprofit organization in the United States focused on finding a cure for Duchenne muscular dystrophy—our mission is to end Duchenne. We invest deeply in treatments for this generation of people affected by Duchenne and in research that will benefit future generations. We advocate in Washington, DC, and have secured hundreds of millions of dollars in funding. We demand optimal care, and we strengthen, unite and educate the global Duchenne community. Everything we do—and everything we have done since our founding in 1994—helps people with Duchenne live longer, stronger lives. We will not rest until every person has a treatment to end Duchenne. Go to www.ParentProjectMD.org for more information or to learn how you can support our efforts and help families affected by Duchenne. Follow PPMD on Facebook, Twitter, and YouTube.