Last data update: May 13, 2024. (Total: 46773 publications since 2009)
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Query Trace: Zobel SD[original query] |
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The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests
Adam BW , Orsini JJ Jr , Martin M , Hall EM , Zobel SD , Caggana M , Hannon WH . Clin Biochem 2011 44 704-10 OBJECTIVE: We aimed to prepare dried-blood spot (DBS) quality control (QC) materials for lysosomal storage disease (LSD) screening tests and to determine optimum blood and DBS storage conditions. METHODS: We compared enzyme activities of five LSD markers in adult blood, umbilical-cord blood, and leukocyte-reduced blood. We measured activities in liquid blood and DBSs after predetermined intervals at controlled temperatures and humidities. RESULTS: Lysosomal-enzyme activity levels in umbilical-cord blood mimicked those in newborn screening samples. Lysosomal-enzyme activities in leukocyte-reduced blood were lower than in LSD-positive patient samples. Enzyme activities were stable in refrigerated liquid blood for 32days and in frozen DBSs stored at low humidity for a year. Activity losses from DBSs after 34days at 37+/-1 degrees C were 35-66% in low humidity and 61-100% in high humidity. CONCLUSIONS: Umbilical-cord blood is the preferred matrix for LSD-normal DBS QC materials. Leukocyte-reduced blood is lysosomal enzyme-deficient. Failure to control humidity during DBS storage results in loss of lysosomal-enzyme activities. |
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