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KMID : 1100820230130040290
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Laboratory Medicine Online
2023 Volume.13 No. 4 p.290 ~ p.300
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Clinical Utility and Reporting of Absence of Heterozygosity in Chromosomal Microarray Analysis
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Kim Kyoung-Bo
Ha Jung-Sook
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Abstract
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With the widespread use of chromosomal microarray (CMA) testing in Korea, the chances for laboratories to detect the absence of heterozygosity (AOH) are increasing. AOH detected by CMA can be caused by chromosomal deletion, identity by descent (IBD) and uniparental disomy (UPD), and provides diagnostic clues for recessive and imprinted diseases, as well as information on parental blood relationship, such as consanguinity. Each laboratory should understand the clinical significance of AOH and apply it to the patient diagnosis. In addition, each laboratory should prepare laboratory policies for AOH detection and reporting results, including information of consanguinity, understanding the legal and ethical aspects.
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KEYWORD
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Microarray analysis, Allelic imbalance, Uniparental disomy, Consanguinity
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