High-Throughput DNA Analyzer and Dedicated Cystic Fibrosis Assays Approved for Diagnostics Use in the United States

The first high-throughput DNA sequencing analyzer to have been granted CE marking clearance for diagnostic use in Europe has now been approved by the [US] Food and Drugs Administration for sale in the United States.

Illumina Inc. (San Diego, CA, USA) received FDA premarket (510k) clearance for the MiSeqDx high-throughput analyzer system as well as for the dedicated MiSeqDx Cystic Fibrosis (CF) 139-Variant Assay, MiSeqDx Cystic Fibrosis Clinical Sequencing Assay, and MiSeqDx Universal Kit.


The MiSeqDx Cystic Fibrosis 139-Variant Assay is a next-generation sequencing test designed for the simultaneous detection of 139 clinically relevant disease-causing mutations and variants within the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Other carrier screening methods test only for those variants most commonly found in Caucasians, potentially missing CF causative variants in a wider demographic. The Illumina assay offers the largest CF screening panel available to overcome this bias and provide comprehensive detection across diverse demographics. This results in the most complete answer the first time, reducing residual risk.

The MiSeqDx cystic fibrosis assays were developed specifically for the MiSeqDx instrument. The user needs only to prepare libraries from 250 nanograms of gDNA, load them on to the MiSeqDx for sequencing using the Illumina sequencing by synthesis (SBS) chemistry, and analyze with the user-friendly software. The automated workflow is quick and easy to perform, minimizing potential human error.

The assay kit includes everything needed for library preparation, sample multiplexing, and sequencing in a single kit. All reagents are packaged in a convenient ready-to-use format that minimizes hands-on time and insures uniformity in all tests. To accommodate a broad spectrum of testing needs, from small to large volumes, the assay is available in two kit configurations (96 or 960 tests).

The MiSeqDx Universal Kit enables clinical laboratories to develop their own diagnostic tests. The kit includes library preparation reagents, sample index primers, and sequencing consumables needed for laboratories to develop amplicon assays on the in vitro diagnostic platform.

“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, general manager of diagnostics at Illumina. “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.”

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