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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.
The TruSight Cystic Fibrosis 139-Variant Assay is an FDA-regulated, CE-IVD-marked NGS test designed to detect 139 CFTR variants defined in the CFTR2 database as of August 2013. Other methods test only for those variants most commonly found in European populations, potentially missing CF-causing variants across broader ancestral groups. The assay offers the largest CF variant panel to overcome this bias and provide comprehensive detection across diverse demographics.2
The TruSight Cystic Fibrosis Clinical Sequencing Assay is an FDA-regulated, 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
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.
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.
Contact an Illumina representative for regional availability.
|Mutations in the ACMG-23 list recommended for CF screening|
Only a subset of variants included in the assay are listed here. To view the full list of variants in the TruSight Cystic Fibrosis 139-Variant Assay, download the variant summary.
CFTR regions sequenced by the assay include protein coding regions across all exons, intron/exon boundaries, ~100 nt of flanking sequence at the 5’ and 3’ UTRs, two deep intronic mutations (1811+1.6kbA>G, 3489+10kbC>T), two large deletions (CFTRdele2,3, CFTRdele22,23) and the PolyTG/PolyT region.
|TruSight Cystic Fibrosis 139-Variant Assay|
|Accuracy||100%||> 99.99%||> 99.99%|
|TruSight Cystic Fibrosis Clinical Sequencing Assay|
|Accuracy||99.66%%||> 99.99%||> 99.99%|
Confirming cystic fibrosis diagnosis in newborns using TruSight Cystic Fibrosis
Application Note | PDF < 1 MB
FAQ Document | PDF < 1 MB
Data Sheet | PDF | 5 versions
Cystic Fibrosis 139-Variant Assay Physician Insert Documentation
All TruSight Cystic Fibrosis Support Documentation
Cystic Fibrosis Clinical Sequencing Assay Physician Insert Documentation
TruSight Cystic Fibrosis Package Insert Documentation
TruSight CF Local Run Manager Software Guides Documentation
MiSeqDx Reagent Kit v3 Micro Package Insert Documentation