Illumina下一代测序系统MiSeqDx获加拿大监管部门批准

  Illumina公司表示，加拿大卫生部门已经同意批准该公司的MiSeqDx仪器，同时还准许该公司利用MiSeqDx进行囊性纤维化相关的139个突变基因的检测以及囊性纤维化的临床测序分析。

  根据该公司的说法，这是加拿大第一次批准下一代测序系统。

  Illumina公司在2013年获得了美国食品和药物管理局针对该仪器和检测的上市前批准。同时，其MiSeqDx通用试剂盒也获得了FDA的批准，包括试剂制备库、样品引物和实验室可以用于研发自己的，基于MiSeqDx系统的实验的测序耗材。

  MiSeqDx囊性纤维化139突变检测实验能够同时检测139个临床相关的致病突变，这些突变主要存在于囊性纤维化跨膜调节基因。Illumina公司说，该检测涵盖了美国大学医学遗传学协会和加拿大大学医学遗传学家们建议需要筛查的所有的囊性纤维化突变类型，以及许多在其他族群中存在的致病突变。

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  Illumina said that Health Canada has granted a medical device license for the firm's MiSeqDx instrument along with its MiSeqDx Cystic Fibrosis 139-Variant Assay and MiSeqDx Cystic Fibrosis Clinical Sequencing Assay.

  According to the firm, the approval is the first for a next-generation sequencing system in Canada.

  Illumina received premarket clearance for the instrument and tests from the US Food and Drug Administration in November 2013. It also received FDA clearance of its MiSeqDx Universal Kit, which includes library preparation reagents, sample index primers, and sequencing consumables that laboratories can use to develop their own assays on the cleared MiSeqDx system.

  The MiSeqDx Cystic Fibrosis 139-Variant Assay simultaneously detects 139 clinically relevant disease-causing mutations and variants within the cystic fibrosis transmembrane conductance regulator gene. It covers all of the CF-causing variants recommended for carrier screening purposes by the American College of Medical Genetics and Genomics and referenced by the Canadian College of Medical Geneticists, as well as "many additional disease causing variants occurring in multiple ethnic sub-groups," said Illumina.（转化医学网360zhyx.com）

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