Aim: Two missense variants in the HFE gene, c.845G>A (p.Cys282Tyr) and c.187C>G (p.His63Asp), are commonly screened as part of the diagnostic workup for HFE-related hereditary hemochromatosis (HH) and iron overload. Identification of the two variants can be achieved by polymerase chain reaction (PCR)-based laboratory tests and other methods. Evaluation of the analytical performance of the test is essential to ensure that the assay is precise and accurate. The aim of this study was to evaluate the analytical performance of the DNA microarray-based Hemochromatosis (2SNP+) Direct assay on the EUROArray test system (EUROIMMUN, Lübeck, Germany).

中文翻译：

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血色素沉着病（2SNP +）直接EUROArray分析对与HFE相关的遗传性血色素沉着症的分子诊断的验证。

目的：通常筛选HFE基因的两个错义变异体c.845G> A（p.Cys282Tyr）和c.187C> G（p.His63Asp），作为HFE相关的遗传性血色病（HH）诊断检查的一部分和铁过载。可以通过基于聚合酶链反应（PCR）的实验室测试和其他方法来鉴定这两个变体。评估测试的分析性能对于确保测定的准确性和准确性至关重要。这项研究的目的是在EUROArray测试系统（EUROIMMUN，德国吕贝克）上评估基于DNA微阵列的血色素沉着病（2SNP +）直接测定的分析性能。