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.
This website stores cookies on your computer. These cookies are used to improve our website and provide more personalised services to you.


To make this site work properly, we sometimes place small data files called cookies on your device. Most big websites do this too.

1. What are cookies?

A cookie is a small text file that a website saves on your computer or mobile device when you visit the site. It enables the website to remember your actions and preferences (such as login, language, font size and other display preferences) over a period of time, so you don’t have to keep re-entering them whenever you come back to the site or browse from one page to another.

2. How do we use cookies?

A number of our pages use cookies to remember your actions and preferences (such as login, language, font size and other display preferences.)

Also, some videos embedded in our pages use a cookie to anonymously gather statistics on how you got there and what videos you visited.

Enabling these cookies is not strictly necessary for the website to work but it will provide you with a better browsing experience. You can delete or block these cookies, but if you do that some features of this site may not work as intended.

The cookie-related information is not used to identify you personally and the pattern data is fully under our control. These cookies are not used for any purpose other than those described here.

3. How to control cookies

You can control and/or delete cookies as you wish – for details, see You can delete all cookies that are already on your computer and you can set most browsers to prevent them from being placed. If you do this, however, you may have to manually adjust some preferences every time you visit a site and some services and functionalities may not work.