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On Heels of Successful MiSeqDx Launch, Illumina Plans to Submit HiSeq 2500, NIPT Assay to FDA

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Illumina said this week that it plans this year to submit for US Food and Drug Administration clearance its HiSeq 2500 platform coupled with Verinata Health's Verifi test for noninvasive prenatal fetal aneuploidy screening.

In a presentation at the JP Morgan Healthcare conference in San Francisco, President and CEO Jay Flatley said the company plans to file the instrument for clearance in 2014 and that the Verifi test would be the first assay. Clearance of the HiSeq 2500 would enable other third parties to submit their test on the system, he said.

Late last year, Illumina received FDA clearance of its MiSeqDx system and three assays — a cystic fibrosis screening assay covering 139 known pathogenic variants, a cystic fibrosis diagnostic covering the entire CFTR gene, and its Universal Kit that includes reagents for users to develop their own assays.

Flatley said this week that in the fourth quarter of 2013 the firm took orders for 300 MiSeq systems, eight of which were for the FDA-cleared MiSeqDx version, despite only receiving clearance in late November.

The MiSeqDx system "received clearance on key analytic claims," Flatley said, which will not only enable customers to use the cleared cystic fibrosis assays, but will also allow them to "submit their own assay methods on top of a cleared platform."

"Very importantly," aside from an assay that screens 139 known pathogenic variants, the firm "received clearance for a second version that sequences the entire CF gene without claiming any specific variants," Flatley said, adding that this is a "significant step forward in how the FDA clears products, given that there's an essentially infinite number of interpretations possible that could be made from sequencing the entire gene."

As such, Illumina "made a strategic decision to submit the HiSeq 2500 for FDA clearance with the Verinata NIPT test as the first application," Flatley said.

Unlike the firm's MiSeqDx submission, the HiSeq 2500 submission will not include a Universal Kit. The company did not elaborate on potential future assays it would submit for FDA clearance on the 2500.