PerkinElmer Launches Clinical Whole Genome Sequencing Services

PerkinElmer Launches Clinical Whole Genome Sequencing Services Thu Aug, 03 | PerkinElmer, Inc. (NYSE: PKI), a global leader committed to innovating for a healthier world, today announced the launch of PerkinElmer Genetics’ clinical genomics 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. PerkinElmer Genetics has two state-of-the-art CLIA-certified clinical laboratories based in Pittsburgh, PA and Branford, CT that process more than 500,000 samples a year.

PerkinElmer and In-Depth Genomics Team Up for Whole Genome Sequencing Diagnostic Program for Rare Diseases

PerkinElmer and In-Depth Genomics Team Up for Whole Genome Sequencing Diagnostic Program for Rare Diseases Sep 14, 2017 COLUMBUS, Ohio September 14, 2017–(BUSINESS WIRE)–National Society of Genetic Counselors Annual Conference, Booth #535 –PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today announced an innovative collaboration with In-Depth Genomics (IDG) to support IDG’s Whole Genome Sequencing (WGS) Diagnostic Program that will bring genetic diagnosis to patients across a wide range of neurological conditions including rare/orphan disorders. This collaboration will help pave the pathway towards improved diagnoses and treatments. “This program is generating excitement from

Neuromuscular Disease Foundation (NDF) Launches Whole Genome Sequencing Research for Rare Muscle Disease

Neuromuscular Disease Foundation (NDF) Launches Whole Genome Sequencing Research for Rare Muscle Disease BEVERLY HILLS, CALIF. (PRWEB) DECEMBER 21, 2017 The Neuromuscular Disease Foundation (NDF) – the world’s leading nonprofit organization focused on the rare genetic disease called GNE Myopathy (GNEM, also known as HIBM) is pleased to announce its collaboration with PerkinElmer for Whole Genome Sequencing (WGS) paired with metabolomics for analysis of 100 samples, set to begin in January 2018. “We are hopeful that this WGS project will help us better understand the molecular pathways for this rare genetic muscle disease,

Parent Project Muscular Dystrophy Selects PerkinElmer to Support Decode Duchenne Program

Parent Project Muscular Dystrophy Selects PerkinElmer to Support Decode Duchenne Program Thu Apr, 05 | 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.” Tweet this Duchenne muscular dystrophy (Duchenne)

PerkinElmer Collaborates with Helix to Drive Innovation in Exome-Based Personal Genomics

PerkinElmer Collaborates with Helix to Drive Innovation in Exome-Based Personal Genomics Tue Apr, 10 | WALTHAM, Mass.–(BUSINESS WIRE)–PerkinElmer, Inc. (NYSE: PKI), a global leader committed to innovating for a healthier world, today announced a collaboration with Helix, a personal genomics company, to develop and commercialize exome sequencing-based tests that will empower consumers to make proactive health management decisions. Tests developed as part of this collaboration will be available to customers of Helix’s expanding online marketplace for DNA-powered products. “We are very excited to collaborate with Helix to bring affordable and high-quality genomic services to healthy

PerkinElmer Sponsors the ACMG Foundation’s Day of Caring Event

PerkinElmer Sponsors the ACMG Foundation’s Day of Caring Event Each year, the ACMG Foundation for Genetic and Genomic Medicine with the support of our dedicated corporate partners and medical genetics and genomics professionals from across the country, host the ACMGF Day of Caring event during ACMG’s Annual Meeting. The Day of Caring partner with local non-profit organization’s to provide adaptive bicycles for children living with genetic disorders. The non-profit organizations that will be represented at the 2018 Annual Meeting in Charlotte, NC are: Little People of America (LPA), Piedmont Health Services and Sickle Cell Agency,

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