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
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
Even though genetic tests are more available and affordable than ever, many patients and physicians still have misconceptions about them.
Patients with rare diseases have much to gain from whole genome testing. Many times a condition may be so rare that physicians have not diagnosed or seen that particular condition. “On average from the time that a first symptom appears, an individual might see anywhere from 16 to 17 healthcare specialists before they get their diagnosis,” says Collins. “And that period of time on average is about seven to 10 years, which is a pretty significant amount of time that patients are searching for answers and trying to find out the cause of their medical issues.”
The journey to diagnosis and beyond for muscular dystrophy has changed profoundly over the past few years – let alone the past decade. For physicians and patients alike, this change can happen at a dizzying speed.
Read this candid interview with Dr. Madhuri Hegde as she discusses the strategy of PerkinElmer Genomics of combining genomic sequencing with a functional enzyme assay, and why whole genome sequencing is our focus and mission. She also reflects on how genomic testing has advanced in the last five years and what that means for providers and their patients.
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
PerkinElmer Accelerates Transformation into High Growth, High Margin Life Sciences & Diagnostics Company
Enters agreement with intention to divest Applied, Food and Enterprise Services businesses
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
PerkinElmer Genomics offers whole genome sequencing (WGS) for every need: standard, prenatal, STAT, and ultrarapid. The clinical utility and relevance of WGS cannot be overstated. As demonstrated by this real case study from our laboratory, comprehensive WGS can finally bring answers to patients, families, and providers. Clinical Background 60-year-old male with a complex phenotype Progressive