Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
| Autor: | Strovel ET; Department of Pathology, University of Maryland School of Medicine, Baltimore, MD., Cusmano-Ozog K; Department of Pathology, Stanford University School of Medicine, Stanford, CA., Wood T; Section of Genetics and Metabolism, Department of Pediatrics, School of Medicine, Children's Hospital Colorado Anschutz Medical Campus, Aurora, CO., Yu C; Department of Genetics and Genomics Science, Icahn School of Medicine at Mount Sinai, New York, NY; Sema4, Stamford, CT. |
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| Jazyk: | angličtina |
| Zdroj: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 769-783. Date of Electronic Publication: 2022 Feb 10. |
| DOI: | 10.1016/j.gim.2021.12.013 |
| Abstrakt: | Assays that measure lysosomal enzyme activity are important tools for the screening and diagnosis of lysosomal storage disorders (LSDs). They are often ordered in combination with urine oligosaccharide and glycosaminoglycan analysis, additional biomarker assays, and/or DNA sequencing when an LSD is suspected. Enzyme testing in whole blood/leukocytes, serum/plasma, cultured fibroblasts, or dried blood spots demonstrating deficient enzyme activity remains a key component of LSD diagnosis and is often prompted by characteristic clinical findings, abnormal newborn screening, abnormal biochemical findings (eg, elevated glycosaminoglycans), or molecular results indicating pathogenic variants or variants of uncertain significance in a gene associated with an LSD. This document, which focuses on clinical enzyme testing for LSDs, provides a resource for laboratories to develop and implement clinical testing, to describe variables that can influence test performance and interpretation of results, and to delineate situations for which follow-up molecular testing is warranted. Competing Interests: Conflict of Interest E.T.S., K.C.-O., T.W., and C.Y. direct clinical biochemical genetics laboratories that run the tests discussed in the current standard on a fee-for-service basis. C.Y. is an employee of Sema4 and has equity ownership in the form of incentive stock options and restricted stock units. (Copyright © 2021 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.) |
| Databáze: | MEDLINE |
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