MiSeqDx Cystic Fibrosis 139-Variant Assay

FDA-cleared NGS assay with the largest panel of clinically relevant, functionally validated cystic fibrosis variants in a diverse population. Read More...
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MiSeqDx Cystic Fibrosis 139-Variant Assay (2 runs, 96 samples)

DX-102-1004

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MiSeqDx Cystic Fibrosis 139-Variant Assay (20 runs, 960 samples)

DX-102-1003

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

FC-130-1005

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TruSeq Index Plate Fixture & Collar Kit (2 each)

FC-130-1007

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Product Highlights

Compared to the current ACMG recommended cystic fibrosis variant panel, the MiSeqDx Cystic Fibrosis 139-Variant Assay offers:

  • Improved Detection Rates of Cystic Fibrosis-Causing Variants
    Detection of couples at risk increased from 72% to ~91%1
  • Reduced Additional Testing
    Highly accurate and reproducible sequencing technology delivers dependable results

The MiSeqDx Cystic Fibrosis 139-Variant Assay is an FDA-cleared in vitro diagnostic (IVD) next-generation sequencing test designed to detect 139 CFTR variants as defined in the CFTR2 database. Other methods test only for those variants most commonly found in Caucasians, potentially missing CF-causing variants across broader ethnic groups. The MiSeqDx Cystic Fibrosis 139-Variant Assay offers the largest CF variant panel to overcome this bias and provide comprehensive detection across diverse demographics.2

Widely adopted next-generation sequencing

The MiSeqDx Cystic Fibrosis 139-Variant Assay provides a fully integrated molecular CF testing solution on the MiSeqDx instrument. Simply prepare libraries from 250 ng gDNA, load on to the MiSeqDx for sequencing using Illumina sequencing by synthesis (SBS) chemistry, and analyze with the user-friendly software. The automated workflow is quick and easy to perform, potentially minimizing human error.

A complete kit for library preparation and sequencing

The MiSeqDx Cystic Fibrosis 139-Variant 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. To accommodate a broad spectrum of testing needs, from small to large volumes, the assay is available in two kit configurations (2 or 20 runs).

Specifications

Intended Use

The Illumina MiSeqDx Cystic Fibrosis 139-Variant Assay is a qualitative in vitro diagnostic system used to simultaneously detect 139 clinically relevant cystic fibrosis disease-causing mutations and variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in genomic DNA isolated from human peripheral whole blood samples. The variants include those recommended in 2004 by the American College of Medical Genetics (ACMG)3 and in 2011 by the American College of Obstetricians and Gynecologists (ACOG)4.

The test is intended for carrier screening in adults of reproductive age, in confirmatory diagnostic testing of newborns and children, and as an initial test to aid in the diagnosis of individuals with suspected cystic fibrosis. 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 laboratory and clinical information. This test is not indicated for use for newborn screening, fetal diagnostic testing, pre-implantation testing, or for stand-alone diagnostic purposes.

The test is intended to be used on the Illumina MiSeqDx instrument.

Contact an Illumina representative for regional availability

For In Vitro Diagnostic Use.

Contact an Illumina representative for regional availability.

Method-Specific Workflow Example

 

Supporting Data and Figures

 

Related Products

Image Source
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.


Image Source
MiSeqDx Universal Kit

A validated, FDA-cleared kit that enables molecular diagnostic laboratories to design their own next-generation sequencing assays for use on the MiSeqDx System.


References
  1. Sosnay PR, Siklosi KR, Van Goor F, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nature Genetics. 2013;45(10):1160-1167
  2. 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
  3. Watson MS, Cutting GR, Desnick RJ, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med. 2004;6(5):387-391
  4. Committee on Genetics. The American College of Obstetricians and Gynecologists Committee Opinion. Update on Carrier Screening for Cystic Fibrosis. 2011;486:1-4.