PerkinElmer Reaches Major Milestone in the Identification of Newborns

6 Aug 2007

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PerkinElmer, Inc., a global technology leader in Health Sciences and Photonics, today announced a major milestone in its global efforts to help identify newborns at risk for genetic disorders. The Company has determined that its neonatal screening technology, utilized in laboratories worldwide for more than 20 years, has helped to identify the 100,000th infant at risk for potentially life-threatening diseases, such as Phenylketonuria (PKU), which can have a positive outcome when intervention begins within the first 24 to 36 hours of life.

"Newborn screening for genetic disorders has become one of the most widely accepted procedures in preventative pediatrics, allowing for the early identification and treatment of otherwise devastating
disorders," said Robert F. Friel, President and Chief Operating Officer of PerkinElmer. "PerkinElmer applauds the efforts of its customers in reaching this key milestone, and remains committed to supporting the global expansion of screening programs to save lives and improve the quality of life for infants with identified disorders."

PerkinElmer is one of several organizations to support the 2004 report from the American College of Medical Genetics (ACMG) that recommends every baby born in the U.S. be screened for at least 29 metabolic and functional disorders, when if detected early, allow for better treatment and management options, leading to an improved quality of life. Through the advocacy of parent groups, healthcare professionals and independent organizations, the standard of care is improving, with the 2007 March of Dimes Newborn Screening Report Card showing that 87.5 percent of babies are born in states that require screening for at least 21 of these disorders, compared to about 38 percent in 2005.

"While we have seen a dramatic increase in the number of serious disorders for which babies in the United States are screened, there is still much room for improvement," said Dr. Jennifer L. Howse, President of the March of Dimes. "The March of Dimes is extremely appreciative of the efforts of PerkinElmer to help equip laboratories around the country with the tools and support needed to expand their newborn screening programs. Babies must receive this screening to help ensure that they can go on to lead healthy lives."

PerkinElmer is the leading supplier of neonatal screening systems to laboratories, offering the world's first and only tandem mass spectrometry (MS/MS) kit cleared by the FDA as an aid to screening for inborn errors of metabolism. The Company is helping to drive the advancement of metabolic disease screening with the capability to analyze more than 40 markers with just a few droplets of dried blood.
All of the approximately four million babies that are screened in the U.S. each year have their blood sample processed through a PerkinElmer system. At current rates, PerkinElmer estimates it will help identify 100,000 more infants at risk of severe disorders within the next five to seven years, though continued expansion of testing platforms and increasing legislative support for expanded programs could mean this next milestone will be reached even sooner.

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Mass SpectrometryMass spectrometry (MS) is a powerful analytical technique used to identify and quantify molecules based on the mass-to-charge ratio of gas-phase ions. It provides detailed information about the structure, composition, and properties of compounds and is widely used across fields such as environmental monitoring, materials science, drug discovery and development, food and beverage testing, and wider chemical research. Key MS techniques include tandem mass spectrometry (MS/MS), liquid chromatography–mass spectrometry (LS-MS) and inductively coupled plasma (ICP-MS). Choosing from these wide range of techniques and technologies can be a daunting task, so keep up to date with scientific applications, performance expectations, and customer reviews here all in one place. Visit our product directory to receive quotes direct from the manufacturer. Genome AnalysisGenomics, the study of genomes, includes functional genomics, evolutionary genomics and comparative genomics. There are many genomic technologies such as DNA sequencing of whole genomes, computational biology and bioinformatics. DNA and nucleic acids must be isolated and concentrated from cells for analysis with kits, automated analyzers and software. Other useful technologies for studying genomics include PCR, microarrays and electrophoresis.HematologyIn Haematology / Hematology, complete blood cell counts (or full blood counts) are obtained using automated blood count analyzers to enumerate blood cell types.  Hematology also encompasses haemostasis and coagulation, thrombophilia and hemophilia, plasma viscosity and ESR analysis, hemoglobinopathies, cell morphology and haematinic measurement.Clinical TrialsClinical Trials, an essential part of drug discovery process, assess the safety and effectiveness of a new medication or device in the pharmaceutical industry. Clinical Trials are a phased process (Phase 0, Phase I, Phase II, Phase III and Phase IV) which begins after initial preclinical testing.Clinical GeneticsMolecular Genetics covers the analysis of hereditary genetic disease and chromosomal abnormalities. Genetics can be analysed using DNA, RNA, and protein microarrays, PCR, RT PCR and DNA sequencing. Genetic equipment includes genetic workstations, thermal cyclers, cooling blocks and electrophoresis products. Diagnostic kits are used for DNA / RNA extraction and purification.
PerkinElmer Reaches Major Milestone in the Identification of Newborns