Performance of succinylacetone assays and their associated proficiency testing outcomes

被引：9

作者：

Adam, B. W. ^{[1
]}

Hall, E. M. ^{[1
]}

Meredith, N. K. ^{[1
]}

Lim, T. H. ^{[1
]}

Haynes, C. A. ^{[1
]}

De Jesus, V. R. ^{[1
]}

Hannon, W. H. ^{[2
]}

机构：

[1] Ctr Dis Control & Prevent CDC, Atlanta, GA 30341 USA

[2] CDC, Buford, GA 30519 USA

来源：

CLINICAL BIOCHEMISTRY | 2012年 / 45卷 / 18期

关键词：

Newborn screening; Neonatal screening; Dried blood spots; Hepatorenal tyrosinemia; Tyrosinemia type I; Succinylacetone; Proficiency testing; Tandem mass spectrometry; Analytic bias; DRIED BLOOD SPOTS; TANDEM MASS-SPECTROMETRY; HEPATORENAL TYROSINEMIA;

D O I：

10.1016/j.clinbiochem.2012.08.007

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Background: Succinylacetone (SUAC) is the primary metabolic marker for hepatorenal tyrosinemia. Materials and methods: We used results reported for dried-blood-spot proficiency testing (PT) specimens and hepatorenal tyrosinemia patients' newborn screening (NBS) samples to demonstrate analytic biases in SUAC recoveries and differences in presumptive clinical classifications. Results: SUAC recoveries from non-kit and NeoBase (TM) kit tandem mass spectrometry methods were markedly different. Kit users that set high cutoff values submitted discordant clinical assessments of "within normal limits" for PT specimens enriched with 10-15 mu mol SUAC/L in blood. SUAC levels in tyrosinemia patients' NBS samples analyzed by NeoBase (TM) kit were lower than those in samples analyzed by non-kit methods. Conclusions: From 2009 to 2011, analytic biases in SUAC recoveries were consistent. Discordant clinical assessments of PT specimens were associated with high cutoff values for NeoBase (TM) kit results. Method-related differences in SUAC concentrations of tyrosinemia patients' samples were consistent with those of PT specimens. (C) 2012 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

引用

页码：1658 / 1663

页数：6

共 12 条

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