MiSeqDx Cystic Fibrosis Clinical Sequencing Assay

FDA-cleared next-generation sequencing assay provides a full view of coding regions of the CFTR gene, to aid in in vitro diagnosis of cystic fibrosis.Read More...

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MiSeqDx Cystic Fibrosis Clinical Sequencing Assay (6 runs, 48 samples)


Materials Required, Sold Separately
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TruSeq Index Plate Fixture Kit (2 fixtures)



TruSeq Index Plate Fixture & Collar Kit (2 each)



Product Highlights

  • Complete View of the CFTR Gene
    Capture all variants in the protein coding regions and intron/exon boundaries of the CFTR gene
  • Accurate Results
    Deep coverage (> 3,000×) allows detection accuracy with a Positive Agreement (PA) of 99.66%*
  • No Demographic Bias
    Sequencing the CFTR gene removes the bias inherent in existing genotyping panels1

* PA includes polyTG/polyT variants

The MiSeqDx Cystic Fibrosis Clinical Sequencing Assay is the first FDA-cleared in vitro diagnostic (IVD) next-generation sequencing (NGS) test designed to sequence all protein coding regions and intron/exon boundaries of the CFTR gene, including two large deletions, two deep intronic mutations, and indels in homopolymeric regions such as the 2184delA deletion. The assay also automatically detects polyTG/polyT variants. Viewing the CFTR sequence eliminates any bias inherent in existing cystic fibrosis (CF) panels. As a result, the MiSeqDx Cystic Fibrosis Clinical Sequencing Assay can uncover rare mutations not accounted for in standard tests.

Widely adopted next-generation sequencing

The MiSeqDx Cystic Fibrosis Clinical Sequencing Assay provides a fully integrated molecular CF testing solution on the MiSeqDx instrument. Amplify 27 CFTR gene target regions in a single PCR step, and multiplex samples to streamline your workflow. Simply prepare libraries from 250 ng gDNA, load on to the MiSeqDx for sequencing using the Illumina sequencing by synthesis (SBS) chemistry, and analyze with the user-friendly software.

A complete kit for library preparation and sequencing

The MiSeqDx Cystic Fibrosis Clinical Sequencing Assay includes all index primers and reagents needed for library preparation, sample multiplexing, and sequencing in a single kit. MiSeqDx sequencing reagents are packaged in a convenient ready-to-use format, minimizing hands-on time, and increasing uniformity in all tests.

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Intended Use

The Illumina MiSeqDx Cystic Fibrosis Clinical Sequencing Assay is a targeted sequencing in vitro diagnostic system that re-sequences the protein coding regions and intron/exon boundaries of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in genomic DNA isolated from human peripheral whole blood specimens collected in K2EDTA. The test detects single nucleotide variants and small indels within the region sequenced, and additionally reports on two deep intronic mutations and two large deletions. The test is intended to be used on the Illumina MiSeqDx instrument.

The test is intended to be used as an aid in the diagnosis of individuals with suspected cystic fibrosis (CF). This assay is most appropriate when the patient has an atypical or non-classic presentation of CF or when other mutation panels have failed to identify both causative mutations. The results of this test are intended to be interpreted by a board-certified clinical molecular geneticist or equivalent and should be used in conjunction with other available information including clinical symptoms, other diagnostic tests, and family history. This test is not indicated for use for stand-alone diagnostic purposes, fetal diagnostic testing, preimplantation testing, carrier screening, newborn screening, or population screening.

For In Vitro Diagnostic Use.

Contact an Illumina representative for regional availability.

Method-Specific Workflow Example


Supporting Data and Figures


Product Literature

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  1. Hughes EE, Stevens CF, Saavedra-Matiz CA, et al. Clinical sensitivity of cystic fibrosis mutation panels in a diverse population. Human Mutation. 2016;37(2):201-208