MiSeqDx Cystic Fibrosis 139-Variant Assay * 日本未発売

FDA-cleared, CE-IVD-marked next-generation sequencing test that conveniently provides two cystic fibrosis testing assays in one product.Read More...

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TruSight Cystic Fibrosis Library Prep

20036925

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Materials Required, Sold Separately
What materials do I need?

MiSeq® Dx Reagent Kit v3

20012552

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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

With TruSight Cystic Fibrosis, you can choose between running the TruSight Cystic Fibrosis 139-Variant Assay or the TruSight Cystic Fibrosis Clinical Sequencing Assay, all from one library preparation.

TruSight Cystic Fibrosis library prep provides a fully integrated molecular CF testing solution on the MiSeqDx instrument. Simply prepare up to 96 libraries from 250 ng gDNA and load onto the MiSeqDx instrument for sequencing. On-board Local Run Manager software provides test analysis and report generation.

TruSight Cystic Fibrosis 139-Variant Assay Highlights
  • 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 TruSight Cystic Fibrosis 139-Variant Assay is an FDA-cleared, CE-IVD-marked NGS 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 assay offers the largest CF variant panel to overcome this bias and provide comprehensive detection across diverse demographics.2

TruSight Cystic Fibrosis Clinical Sequencing Assay 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 panels2

The TruSight Cystic Fibrosis Clinical Sequencing Assay is an FDA-cleared, CE-IVD-marked 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 CF panels. As a result, the TruSight Cystic Fibrosis Clinical Sequencing Assay can uncover rare mutations not accounted for in standard tests.

* PA includes polyTG/polyT variants

Frequently Purchased Together

仕様

Intended Use

TruSight Cystic Fibrosis 139-Variant Assay

The Illumina TruSight 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.

TruSight Cystic Fibrosis Clinical Sequencing Assay

The Illumina TruSight 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

 

Related Products

MiSeqDx Reagent Kit v3

A validated, FDA-regulated, CE-IVD–marked sequencing kit for use on the MiSeqDx instrument, offering improved quality scores compared to previous versions.


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.