CLSI NBS07
Newborn Blood Spot Screening for Pompe Disease by Lysosomal Acid a-Glucosidase Activity Assays
CLSI NBS07 helps medical laboratories stay ahead in testing and detecting Pompe Disease, a lethal disorder that is not evident at birth. This document offers guidance on using Lysosomal Acid α-Glucosidase Activity Assays to detect classic infantile-onset Pompe Disease.
This reaffirmed document has been reviewed and confirmed as suitable to remain published without revision to content, as of June 2022.
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{{FormatPrice(nonMemberPrice)}} List PriceClinical 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.
This report discusses the detection of Pompe disease (PD), also known as glycogen storage disease type II, by population-based newborn dried blood spot (DBS) screening, and focuses on enzyme activity assays for detecting PD. It is intended to provide information for incorporating PD newborn DBS screening into the routine operations of existing newborn screening (NBS) programs.
This report includes background information on the biological and clinical features of PD, a lysosomal storage disorder (LSD). It provides descriptions of the different enzyme activity assays for PD and discusses preanalytical, analytical, and postanalytical issues for laboratory practices (see Subchapter 1.4.1). Also, the report includes a discussion of short-term and long-term follow-up (LTFU) procedures, including case tracking, as well as the diagnostic tests needed to confirm a PD diagnosis. It contains limited discussion of LSDs other than PD for which DBS-based enzyme activity assays exist, including Gaucher disease, Fabry disease, Krabbe disease, and Niemann-Pick disease type A/B.
The intended users of this report are NBS laboratory personnel, public health program personnel, follow-up programs, health care professionals, those involved with oversight of NBS testing, and manufacturers of NBS instruments, reagents, and related products.
This report does not cover:
• DBS specimen collection for PD newborn DBS screening (see CLSI document NBS01)
• Enzyme activity assays for newborn DBS screening of LSDs other than PD
• Immunoreactive assays for LSD detection, because the reagents are not generally available
• Method performance comparisons of assays currently used for PD newborn DBS screening
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.
This report discusses the detection of Pompe disease (PD), also known as glycogen storage disease type II, by population-based newborn dried blood spot (DBS) screening, and focuses on enzyme activity assays for detecting PD. It is intended to provide information for incorporating PD newborn DBS screening into the routine operations of existing newborn screening (NBS) programs.
This report includes background information on the biological and clinical features of PD, a lysosomal storage disorder (LSD). It provides descriptions of the different enzyme activity assays for PD and discusses preanalytical, analytical, and postanalytical issues for laboratory practices (see Subchapter 1.4.1). Also, the report includes a discussion of short-term and long-term follow-up (LTFU) procedures, including case tracking, as well as the diagnostic tests needed to confirm a PD diagnosis. It contains limited discussion of LSDs other than PD for which DBS-based enzyme activity assays exist, including Gaucher disease, Fabry disease, Krabbe disease, and Niemann-Pick disease type A/B.
The intended users of this report are NBS laboratory personnel, public health program personnel, follow-up programs, health care professionals, those involved with oversight of NBS testing, and manufacturers of NBS instruments, reagents, and related products.
This report does not cover:
• DBS specimen collection for PD newborn DBS screening (see CLSI document NBS01)
• Enzyme activity assays for newborn DBS screening of LSDs other than PD
• Immunoreactive assays for LSD detection, because the reagents are not generally available
• Method performance comparisons of assays currently used for PD newborn DBS screening