PerkinElmer took part as an exhibitor in the Newborn Screening and Genetic Testing Symposium, held 10–13 September in New Orleans, Louisiana, USA. The symposium, sponsored by the Association of Public Health Laboratories, is a major global event for companies, organizations and advocacy groups involved with newborn screening.
A video created in South Africa with the support of the Newborn Screening Laboratory at North-West University and the Technology Innovation Agency addresses the lack of neonatal screening in South Africa. Through the stories of three South African families whose babies could have been saved permanent disability and even untimely death, the video urges all mothers to make sure their babies are screened.
We would like to recognize the Hospital Nacional Docente Madre Niño San Bartolome as the first newborn screening laboratory in Lima, Peru to join laboratories world-wide using AutoDELFIA® analyzers to screen for TSH and 17 OHP. This laboratory also expects to be the first lab in Peru to meet the government mandate to screen all newborns for Cystic Fibrosis using the IRT assay. Congratulations to Dr. Bindels and her team for making this happen.
PerkinElmer® Genetics, located just outside of Pittsburgh, Pennsylvania, has been providing newborn screening services for over 20 years. During that time, the laboratory has processed close to six million samples using biochemical, molecular and mass spec based technology while partnering with the states of Pennsylvania, Mississippi, Nebraska, Louisiana and the District of Columbia. In 2010, PerkinElmer Genetics started offering a 6-plex assay to test for Gaucher, Niemann-Pick, Krabbe, Hurler-MPS-I, Pompe and Fabry lysosomal storage disorders. More recently, they completed the development and validation of tests for MPS-IVA and VI. Work is also underway to add testing for Adrenoleukodystrophy (X-ALD) with the goal to being able to offer all these tests as part of their StepOne® Newborn Screening, a “Lab in a Lab” or as back-up testing for labs that experience unplanned outages. For more information, please contact PJ Borandi at PJ.Borandi@PerkinElmer.com.