Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns.

IF 4 Q1 GENETICS & HEREDITY
Paul Dantonio, Tracy Klug, Golriz Yazdanpanah, Christopher Haynes, Hui Zhou, Patrick Hopkins, Robert Vogt, Rachel Lee, Carla Cuthbert, Konstantinos Petritis
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引用次数: 0

Abstract

Newborn bloodspot screening for one or more lysosomal storage disorders (NBS-LSD) is currently performed by many public health NBS laboratories globally. The screening tests measure activities of selected lysosomal enzymes on dried blood spot (DBS) specimens collected from newborns by the heel stick method Because these assays measure enzyme activity, the quantitative results are dependent on the particular analytical method. DBS quality control (DBS QC) materials with assay-specific certified values that span the relevant range from typical to LSD-affected newborns are an important component of quality assurance in NBS laboratories. The Newborn Screening Quality Assurance Program (NSQAP) at the U.S. Centers for Disease Control and Prevention (CDC) provides public health NBS laboratories with DBS QC sets for NBS-LSD comprising four admixtures of pooled umbilical cord blood and a base pool made from leukodepleted peripheral blood and heat-inactivated serum. To evaluate the suitability of these materials for use with digital microfluidics fluorometry (DMF) assays which can currently measure the activity of four enzymes (acid α-galactosidase (GLA); acid β-glucocerebrosidase (GBA); acid α-glucosidase (GAA); and iduronidase (IDUA)), CDC collaborated with the Newborn Screening Unit at the Missouri State Public Health Laboratory (MSPHL). Using MSPHL criteria, we found that the certified results from each of two DBS QC lots collectively spanned the range from typical (screen negative) to enzyme deficient (screen positive) newborn DBS levels for each of the four lysosomal enzymes measured. The range included borderline results that would require repeat screening of the newborn under the MSPHL protocol. We conclude that these DBS QC preparations are suitable for use as external quality control materials for DMF assays used to detect LSDs in newborns.

用数字微流体荧光法检测新生儿溶酶体贮积性疾病的溶酶体酶活性测定中干血斑质控材料的表征。
新生儿血斑筛查一种或多种溶酶体贮积症(NBS- lsd)目前由全球许多公共卫生NBS实验室进行。筛选试验是测定新生儿干血斑(DBS)标本中所选溶酶体酶的活性。因为这些试验测定的是酶的活性,定量结果取决于特定的分析方法。DBS质量控制(DBS QC)材料与测定特定认证值跨越相关范围从典型到lsd影响新生儿是NBS实验室质量保证的重要组成部分。美国疾病控制和预防中心(CDC)的新生儿筛查质量保证计划(NSQAP)为NBS公共卫生实验室提供了用于NBS- lsd的DBS QC设备,该设备包括四种混合脐带血和由白细胞缺失的外周血和热灭活血清制成的基础池。评估这些材料用于数字微流体荧光测定法(DMF)的适用性,DMF目前可以测量四种酶的活性(酸性α-半乳糖苷酶(GLA);酸性β-葡萄糖脑苷酶;α-葡萄糖苷酶(GAA);和伊杜脲酶(IDUA)),疾病预防控制中心与密苏里州公共卫生实验室(MSPHL)的新生儿筛查部门合作。使用MSPHL标准,我们发现两个DBS QC批次的认证结果共同跨越了从典型(筛查阴性)到酶缺陷(筛查阳性)新生儿DBS水平的范围,测量了四种溶酶体酶。该范围包括需要根据MSPHL协议对新生儿进行重复筛查的边缘性结果。我们得出结论,这些DBS QC制剂适合作为用于检测新生儿lsd的DMF测定的外部质量控制材料。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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