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Validation of the Hemochromatosis (2SNP+) Direct EUROArray Assay for the Molecular Diagnosis of HFE-Related Hereditary Hemochromatosis.

Genetic testing and molecular biomarkers - 1 Sept 2020

Poon Kok-Siong, Lee Cai-De, Kok Nicholas Tzun-Kit, Tan Karen Mei-Ling

Abstract excerpt

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...

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PMID: 32762549
DOI: 10.1089/gtmb.2020.0021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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