Revity, Inc. was established in May 2023 as a science-based company that leverages innovation in life sciences and diagnostics to improve lives globally. Revvity Omics has replaced PerkinElmer Genomics as the company’s genomics services business. The organization builds on its legacy of screening 40 million babies annually across 110 countries for life-threatening diseases and leverages this expertise in the newborn screening ecosystem to provide pharmaceutical companies access to the latest advances in the field of genetics.  Revvity Omics combines this expertise with the force of its pa ..read more

No one wants to miss an opportunity for success, particularly in drug development. When pharmaceutical companies reach out to Revvity Omics only at a later stage in their drug development, they miss out on the deep expertise Revvity Omics brings to the early stages of drug creation and delivery. Companies who work with Revvity Omics early in the drug development process reap the benefits of close evaluation of the product and its intended use. This proactive approach also involves the development of a strategic plan for partnership and collaboration throughout the entire drug development life ..read more

In July 2021, The American College of Medical Genetics and Genomics (ACMG) released practice guidelines recommending that exome and genome sequencing be considered a first- or second-tier test for pediatric patients with congenital anomalies, developmental delay, or intellectual disability.1 ACMG’s systematic evidence-based review on the impact of exome and genome sequencing in this patient population found: Exome and genome sequencing had a higher diagnostic yield than standard genetic testing (ex. single gene, panels, CMA). Increased evidence of therapeutic benefit. Lower cos ..read more

Even though genetic tests are more available and affordable than ever, many patients and physicians still have misconceptions about them. Now, we talk with two certified genetic counselors at PerkinElmer Genomics to bust the top ten myths about genetic testing. Teresa Blake, MS, CGC, LGC is the director of scientific and commercial operations and works to provide a better customer experience both in the US and globally. Erin Shehan, MS, CGC, a genomic testing consultant, works with physicians and patients to facilitate their diagnostic journey. Myth #1: Genetic testing is expensive and, theref ..read more

Role of Team Rare disease patients present as medical mysteries. Physicians listen to their stories, make clinical observations, and then often turn to genomic testing to find answers. The clinical reporting team serves as Sherlock Holmes: suggesting tests, deciphering results, and sometimes tapping into a vast database of unpublished data. “I would say that one of my significant roles as somebody who’s working on a clinical reporting team in a laboratory, is to understand if a clinician thinks that the patient has a certain disorder,” says Christin D. Collins, laboratory director at PerkinElm ..read more

Ever since the Human Genome Project helped usher in our modern genetic age, advances in understanding how DNA contributes to our biology have barreled ahead. Every week, doctors and researchers are making new discoveries about how our genes, and the proteins they code for, contribute to both health and disease. And this has never been more salient than in the youngest among us. Genomic testing can now give families and doctors invaluable insights into solving diagnostic odysseys, timely intervention, and their children’s future health. Whereas a few decades ago, doctors could only test for a ..read more

Mutations in the MYH7 and MYBPC3 genes account for approximately 50%1 of cases of hypertrophic cardiomyopathy (HCM). But HCM can also be caused by pathogenic variants in many genes (genetic heterogeneity), including seven additional sarcomeric genes (MYBPC3, TNNT2, TPM1, MYL2, MYL3, TNNI3, ACTC1). Further complicating the HCM picture are disorders such as Pompe disease, Fabry disease, PRKAG2‐cardiomyopathy, Danon disease, TTR‐amyloidosis, and other conditions due to mitochondrial dysfunctions that present with HCM and phenotypically mimic isolated HCM.2 ..read more

Enters agreement with intention to divest Applied, Food and Enterprise Services businesses WALTHAM, Mass.–(BUSINESS WIRE)–Aug. 1, 2022– PerkinElmer, Inc. (NYSE: PKI), a global leader committed to innovating for a healthier world, today announced it has entered into an agreement with the intention to divest its Applied, Food and Enterprise Services businesses to New Mountain Capital, a leading growth-oriented private equity firm, for total consideration of $2.45 billion in cash, $2.30 billion of which will be received at the closing and $150 million of wh ..read more

Use of genome sequencing in the prenatal diagnostic setting is steadily increasing. Karyotyping and chromosomal microarray (CMA) remain the leading strategies for investigating the potential genetic etiology of fetal structural anomalies; however, as more providers recognize the benefits of genome sequencing, its volume is increasing. This growing provider use has prompted position statements for the use of whole exome sequencing (WES) in prenatal cases from professional organizations including the American College of Medical Genetics and Genomics (ACMG), the British S ..read more

Latest addition to Company’s genomic testing services menu delivers rapid results to physicians that inform clinical management and outcomes for critically ill patients WALTHAM, Mass. – May 16, 2022 – PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today announced the availability of ultrarapid whole genome sequencing (urWGS) through PerkinElmer Genomics. This addition to the Company’s portfolio of whole genome sequencing (WGS) offerings provides physicians with comprehensive, meaningful results in five days to help inform clinical management and improve outco ..read more