News March 9th 2016

PerkinElmer Genetics Launches New LSD Testing Service

PerkinElmer Genetics

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

The manner in which this information is used to guide patient care is the responsibility of the healthcare provider, including advising for the need for genetic counseling or additional diagnostic testing. Any diagnostic test should be interpreted in the context of all available clinical findings. This test was developed by, and its performance characteristics were determined by Illumina, Inc. It has not been cleared or approved by the U. S. Food and Drug Administration. Although laboratory-developed tests to date have not been subject to U.S. FDA regulation, certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the quality and validity of the tests. Our laboratory is CAP-accredited and certified under CLIA as qualified to perform high complexity clinical laboratory testing.