TruSight Cystic Fibrosis FAQs

  • General


  • MiSeqDx Cystic Fibrosis assays consist of two different FDA-cleared, CE-IVD marked CF assay testing kits: the MiSeqDx Cystic Fibrosis 139-Variant Assay (Catalog no. DX-102-1004) and the MiSeqDx Cystic Fibrosis Clinical Sequencing Assay (Catalog no. DX-102-1001). These products were launched in 2013 and use the MiSeqDx Sequencing System with the MiSeqDx Reagent Kit v1. Both these assays use a coupled kit solution that provides library prep and sequencing reagents.

    TruSight Cystic Fibrosis combines the MiSeqDx Cystic Fibrosis assays into one FDA-regulated assay. TruSight Cystic Fibrosis (Catalog no. 20036925) combines the TruSight Cystic Fibrosis 139-Variant Assay and the TruSight Cystic Fibrosis Clinical Sequencing Assay into one library prep product providing both testing options. TruSight Cystic Fibrosis requires the use of the MiSeqDx Sequencing System and MiSeqDx Reagent Kit v3 (Catalog no. 20012552). MiSeqDx Reagent Kit v3 sequencing reagents are not provided with the library prep kit and must be purchased separately.

    For more detailed information, refer to the TruSight Cystic Fibrosis Package Insert (Document no. 1000000097720) and data sheet. These documents can be found on the product support site.

    The TruSight Cystic Fibrosis 139-Variant Assay is a qualitative in vitro diagnostic assay that detects 139 clinically relevant CF-causing mutations and variants in the CFTR gene simultaneously in genomic DNA isolated from human peripheral whole blood specimens. The test is intended for:

    • Carrier screening in adults of reproductive age
    • Confirmatory diagnostic testing of newborns and children
    • Initial test to aid in the diagnosis of individuals with suspected CF

    The TruSight Cystic Fibrosis Clinical Sequencing Assay is a targeted sequencing in vitro diagnostic assay that resequences the protein coding region and intron/exon boundaries of the CFTR gene in genomic DNA isolated from human peripheral whole blood. The test is intended for:

    • Aid in the diagnosis of individuals with suspected CF
    • Use when the patient has an atypical or nonclassical presentation of CF
    • Use in situations where other mutation panels have failed to identify both causative mutations
  • Data Analysis


  • When a sequencing run is complete, there will be an output folder containing all of the sequencing files. The path for this can be found in the “Sequencing Information” tab of Local Run Manager. In that path, there is an “Alignment_#” folder that contains a zipped file. After unzipping the file, the VCF and BAM files will be available. FASTQ files are available on the local drive (on the MiSeqDx computer). The default path for this is D:\Illumina\MiSeqAnalysis\{RunID}\Data\Intensities\BaseCalls.

    BCL, FASTQ, and VCF files are included for long-term storage.