Wayne, Pennsylvania, USA—The Clinical and Laboratory Standards Institute has published two newborn screening documents: Newborn Screening by Tandem Mass Spectrometry (NBS04-Ed2), and Newborn Blood Spot Screening for Pompe Disease by Lysosomal Acid a-Glucosidase Activity Assays (NBS07-Ed1).
Newborn Screening by Tandem Mass Spectrometry (NBS04-Ed2)
To update laboratories on the routine use of tandem mass spectrometry (MS/MS) for the detection of certain metabolic disorders using dried blood spot specimens, CLSI has published Newborn Screening by Tandem Mass Spectrometry (NBS04-Ed2).
Newborn Blood Spot Screening for Pompe Disease by Lysosomal Acid a-Glucosidase Activity Assays (NBS07-Ed1)
To inform newborn screening laboratories about current methods used to detect Pompe Disease using dried blood spot (DBS) specimens, CLSI has published Newborn Blood Spot Screening for Pompe Disease by Lysosomal Acid a-Glucosidase Activity Assays (NBS07-Ed1).
Pompe disease (PD) is a congenital clinical disorder not evident at birth that is due to GAA deficiency. Early detection is critical, because without treatment, most babies with classic infantile-onset PD will die from cardiorespiratory failure. A laboratory operations overview detailing the physical layout, instrumentation, assay protocols, automated methodologies, and the potential for future expansion is included.
The document discusses steps for implementing PD newborn DBS screening, including:
For more information about Newborn Screening products, contact Patrick McGinn at firstname.lastname@example.org or +1.484.588.5933.
About Clinical Laboratory Standards Institute (CLSI)
CLSI sets the standard for quality in medical laboratory testing. A not-for-profit membership organization, CLSI brings together the global laboratory community for the advancement of a common cause: to foster excellence in laboratory medicine.
For nearly 50 years, our members, volunteers, and customers have made CLSI a respected, transformative leader in the development and implementation of medical laboratory testing standards. Through our unified efforts, we will continue to set and uphold the standards that drive quality test results, enhance patient care delivery, and improve health care around the world.
By using CLSI standards, laboratorians can improve process quality, speed the development of standard operating procedures, and implement safer practices with greater ease and efficiency.