帕金森病的商业基因检测领域。
The commercial genetic testing landscape for Parkinson's disease.
机构信息
Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis, USA.
Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis, USA.
出版信息
Parkinsonism Relat Disord. 2021 Nov;92:107-111. doi: 10.1016/j.parkreldis.2021.10.001. Epub 2021 Oct 19.
INTRODUCTION
There have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered for PD as the first step of our gene curation.
METHODS
The National Institutes of Health (NIH) Genetic Testing Registry (GTR) was queried on 12/7/2020 to identify current commercial PD genetic test offerings by clinical laboratories, internationally.
RESULTS
We identified 502 unique clinical genetic tests for PD, from 28 Clinical Laboratory Improvement Amendments (CLIA)-approved clinical laboratories. These included 11 diagnostic PD panels. The panels were notable for their differences in size, ranging from 5 to 62 genes. Five genes for variant query were included in all panels (SNCA, PRKN, PINK-1, PARK7 (DJ1), and LRRK2). Notably, the addition of the VPS35 and GBA genes was variable. Panel size differences stemmed from inclusion of genes linked to atypical parkinsonism and dystonia disorders, and genes in which the link to PD causation is controversial.
CONCLUSION
There is an urgent need for expert opinion regarding which genes should be included in a commercial laboratory multi-gene panel for PD.
简介
目前针对帕金森病（PD）或帕金森综合征，临床检测哪些基因尚无具体指导。我们评估了临床基因检测的种类，作为基因筛选的第一步。
方法
我们于 2020 年 12 月 7 日查询了美国国立卫生研究院（NIH）遗传检测登记处（GTR），以确定国际上临床实验室目前提供的 PD 商业基因检测产品。
结果
我们从 28 家获得临床实验室改进修正案（CLIA）批准的临床实验室中确定了 502 种独特的 PD 临床基因检测。这些检测包括 11 种 PD 诊断试剂盒。这些试剂盒的特点是大小不同，范围从 5 到 62 个基因。所有试剂盒都包含了用于变异查询的 5 个基因（SNCA、PRKN、PINK-1、PARK7（DJ1）和 LRRK2）。值得注意的是，VPS35 和 GBA 基因的添加情况各不相同。试剂盒大小的差异源于纳入了与非典型帕金森病和肌张力障碍疾病相关的基因，以及与 PD 病因相关的有争议的基因。
结论
对于商业实验室多基因 PD 检测试剂盒应包含哪些基因，专家意见迫在眉睫。
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