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Newborn Blood Spot Screening for Pompe Disease by Lysosomal Acid α-Glucosidase Activity Assays, 1st Edition

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CLSI NBS07

Newborn Blood Spot Screening for Pompe Disease by Lysosomal Acid α-Glucosidase Activity Assays, 1st Edition

Classic infantile-onset Pompe disease is a lethal disorder not evident at birth. Outcomes are improved by presymptomatic detection. Learn about measuring acid α-glucosidase enzyme activity to detect Pompe disease.

This reaffirmed document has been reviewed and confirmed as suitable to remain published without revision to content, as of June 2022. The document’s next scheduled review is generally five years after the reaffirmation date.

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Details

Chairholder: Joseph Orsini, PhD and C. Ronald Scott, MD

Date of Publication: March 30, 2017

Order Code PDF: CLSI NBS07Ed1E
ISBN Number: 1-56238-815-0

Order Code Print: CLSI NBS07Ed1
ISBN Number: 1-56238-814-2

Edition: First

Pages: 70

CLSI NBS07 Abstract

Clinical and Laboratory Standards Institute report NBS07—Newborn Blood Spot Screening for Pompe Disease by Lysosomal Acid α-Glucosidase Activity Assays describes the currently available laboratory tests used to measure acid α-glucosidase (GAA) enzyme activity in dried blood spot (DBS) specimens. 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. Steps for implementing PD newborn DBS screening, including validating the laboratory test, conducting pilot studies, and transitioning to routine screening, are discussed.

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