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.
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.