溶酶体疾病的生物标志物检测:美国医学遗传学和基因组学学院(ACMG)技术标准。

IF 6.6 1区 医学 Q1 GENETICS & HEREDITY Genetics in Medicine Pub Date : 2024-11-04 DOI:10.1016/j.gim.2024.101242
Ashlee R Stiles, Taraka R Donti, Patricia L Hall, William R Wilcox
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引用次数: 0

摘要

溶酶体疾病(LD)生物标志物的测定可揭示有关疾病状况的宝贵信息。溶菌体-球藻糖基甘油酰胺(溶-Gb3)、葡糖基鞘氨醇苷(溶-Gb1)、半乳糖基鞘氨醇苷(psychosine)和葡萄糖四糖(Glca1-6Glca1-4Glca1-4Glc,Glc4)分别是与法布里病、戈谢病、克拉贝病和庞贝病相关的生物标记物。临床生物标记物检测用于指导患者管理,包括监测疾病进展和开始治疗,以及对有症状的患者或有阳性家族史或新生儿筛查异常的无症状患者进行诊断评估。生物标记物分析可以通过对单一分析物进行独立分析,也可以通过液相色谱分离和串联质谱检测对一种以上疾病的分析物进行多重检测。制定这些指南的目的是为生物标记物分析、结果解释和结果报告提供技术标准,并以法布里病、戈谢病、克拉贝病和庞贝病为例加以说明。
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Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Measurement of lysosomal disease (LD) biomarkers can reveal valuable information about disease status. Lyso-globotriaosylceramide (lyso-Gb3), glucosylsphingosine (lyso-Gb1), galactosylsphingosine (psychosine), and glucose tetrasaccharide (Glca1-6Glca1-4Glca1-4Glc, Glc4) are biomarkers associated with Fabry, Gaucher, Krabbe, and Pompe disease, respectively. Clinical biomarker testing is performed to guide patient management, including monitoring disease progression and initiating treatment, and in diagnostic evaluations of either symptomatic patients or asymptomatic individuals with a positive family history or abnormal newborn screen. Biomarker analysis can be performed through independent analysis of a single analyte or as a multiplex assay measuring analytes for more than one disorder utilizing liquid chromatographic separation and tandem mass spectrometric detection. These guidelines were developed to provide technical standards for biomarker analysis, results interpretation, and results reporting, highlighting Fabry, Gaucher, Krabbe, and Pompe diseases as examples.

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来源期刊
Genetics in Medicine
Genetics in Medicine 医学-遗传学
CiteScore
15.20
自引率
6.80%
发文量
857
审稿时长
1.3 weeks
期刊介绍: Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.
期刊最新文献
Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Editorial Board Masthead Table of Contents Correspondence on “The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2” by Lai et al
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