基因检测在健康筛查中的现状与未来，宁根dock

Health Evaluation and Promotion Pub Date : 2022-03-10 DOI:10.7143/jhep.49.263

Junichi Taguchi, Ruriko Horio

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引用次数: 0

摘要

遗传性副神经节瘤嗜铬细胞瘤综合征、结节性硬化症、wt1相关Wilms肿瘤、2型神经纤维瘤病ehers - danlos综合征、血管型、Marfan综合征、Loeys-Dietz综合征、家族性胸主动脉瘤及夹层、肥厚性心肌病、扩张性心肌病、儿茶酚胺能型多型室性心动过速、致心律失常性右室心肌病、Romano-Ward长qt间期综合征1、2、3型、Brugada综合征、家族性高胆固醇血症、Wilson病、鸟氨酸转氨基甲酰基酶缺乏、法布里病、庞贝病毛细血管扩张;

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Present and Future of Genetic Tests in Health Screening, Ningen-Dock

Hereditary paraganglioma pheochromocytoma syndrome, Tuberous sclerosis complex, WT1-related Wilms tumor, Neurofibromatosis type 2 循環器関連およびその他疾患：Ehlers-Danlos syndrome, vascular type, Marfan syndrome, Loeys-Dietz syndromes,and familial thoracic aortic aneurysms and dissections, Hypertrophic cardiomyopathy, dilated cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia, Arrhythmogenic right ventricular cardiomyopathy, Romano-Ward long-QT syndrome types 1, 2,and 3, Brugada syndrome, Familial hypercholesterolemia, Wilson disease, Ornithine transcarbamylase deficiency, Malignant hyperthermia susceptibility Biotinidase Fabry disease, Pompe disease telangiectasia,

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Health Evaluation and Promotion

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