The FDA granted Illumina premarket clearance for its MiSeqDx system, the first high-throughput DNA sequencing analyzer to receive such approval. Illumina also received FDA premarket clearance for the MiSeqDx Cystic Fibrosis 139-Variant Assay, MiSeqDx Cystic Fibrosis Clinical Sequencing Assay, and MiSeqDx Universal Kit.

“Illumina is proud to be the first company to obtain FDA clearance for a high-throughput DNA sequencing analyzer and next-generation sequencing-based assays,” said Greg Heath, senior vp and general manager of Illumina’s diagnostics business. “With the FDA clearance of the MiSeqDx, Illumina is providing clinicians and clinical laboratories with the tools needed to obtain comprehensive and reliable results from a DNA sequencing analyzer and enabling them to create and deploy NGS-based molecular diagnostic tests for cystic fibrosis and a wide range of other applications.”

Francis S. Collins, M.D., Ph.D., director, NIH, lauded the FDA decision, calling it a “landmark move” that will help to realize the promise of personalized medicine.

“I commend the FDA not only for the immediate impact of its decision, but for the pathway it has created for the clearance of future devices that may incorporate further improvements in sequencing technology and cost effectiveness,” he said. “The availability of high-throughput DNA sequencers will enable physicians to take a comprehensive look at a patient’s genetic blueprint, or genome, to search for a wide range of variations or changes that increase risk of disease, drive the disease process, and/or affect response to medications and other treatments.”

The MiSeqDx benchtop sequencer offers users the ability to run diagnostic or research applications on a single, easy-to-use system, explained Heath. “Designed and validated for the clinical market, the MiSeqDx with the portfolio of FDA-cleared in vitro diagnostic kits and assays leverage Illumina’s sequencing by synthesis chemistry for high confidence in results,” he continued.

The MiSeqDx Cystic Fibrosis 139-Variant Assay is designed for simultaneous detection of 139 clinically relevant disease-causing mutations and variants within the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The assay includes all cystic fibrosis-causing variants recommended for carrier screening purposes by the American College of Medical Genetics and Genomics and the American College of Obstetricians and Gynecologists.

The MiSeqDx Cystic Fibrosis Clinical Sequencing Assay leverages Illumina’s targeted resequencing chemistry to provide highly accurate sequencing data for the protein coding regions and intron/exon boundaries of the CFTR gene, according to Heath, who added that the MiSeqDx Universal Kit enables clinical laboratories to develop their own diagnostic tests.

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