Products

TruSight Cystic Fibrosis

FDA-regulated, CE-marked <i>in vitro</i> diagnostic (IVD) next-generation sequencing assay conveniently providing two cystic fibrosis tests in one product.

TruSight Cystic Fibrosis

FDA-regulated, CE-marked <i>in vitro</i> diagnostic (IVD) next-generation sequencing assay conveniently providing two cystic fibrosis tests in one product.

TruSight Cystic Fibrosis

FDA-regulated, CE-marked in vitro diagnostic (IVD) next-generation sequencing assay conveniently providing two cystic fibrosis tests in one product.

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Data sheet PDF < 1 MB 5 versions

This product is only available in select locations. Please select the location where you would like this product to be shipped to see availability.

MiSeqDx Reagent Kit v3, Micro provides a flexible, cost-saving option for running a smaller batch size of 24-36 samples. This product is currently validated for exclusive use with the TruSight Cystic Fibrosis 139-Variant Assay. Available in select geographies. 

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Overview
Applications
Documentation
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Overview

TruSight Cystic Fibrosis is an FDA-regulated in vitro diagnostic (IVD) NGS solution that consolidates two cystic fibrosis assays into a single workflow.

Combines an ancestrally diverse variant panel with full CFTR sequencing
Provides efficient library prep and highly flexible throughput
Generates a highly accurate and easily interpreted report

TruSight Cystic Fibrosis 139-Variant Assay

Accurately detects 139 clinically relevant CFTR variants defined in the CFTR2 database as of August 2013.¹

Improves detection of CF-causing variants from 72 to ~91% sensitivity²
Reduces additional testing with reliable results
Provides comprehensive detection across diverse demographics³

TruSight Cystic Fibrosis Clinical Sequencing Assay 

Captures all variants in the protein coding regions and intron/exon boundaries for a complete view of the CFTR gene.

Delivers deep coverage (> 3000×) for detection accuracy with a Positive Agreement (PA) of 99.66% (includes polyTG/polyT variants)
Removes demographic bias inherent in existing genotyping panels³
Automatically detects polyTG/polyT variants
Uncovers rare mutations not accounted for in standard tests

Specifications

Assay time	2.5 days
Hands-on time	3.5 hr
Input quantity	250 ng genomic DNA
Instruments	MiSeqDx Instrument
Method	Targeted DNA sequencing, Amplicon sequencing
Nucleic acid type	DNA
Sample throughput	24–96 samples per sequencing run
Species category	Human
Technology	Sequencing

Required Products

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Applications

TruSight Cystic Fibrosis is an FDA-regulated, CE-marked IVD NGS assay that provides two cystic fibrosis tests for carrier screening, confirmatory diagnostic testing of newborns and children, initial testing to aid in diagnosis (TruSight Cystic Fibrosis 139-Variant Assay), and testing in atypical presentations or when other panels have failed to identify causative mutations (TruSight Cystic Fibrosis Clinical Sequencing Assay).

Example workflow

Prep

TruSight Cystic Fibrosis 139-Variant Assay

TruSight Cystic Fibrosis Clinical Sequencing Assay

Sequence

MiSeqDx Reagent Kit v3, Micro

Analyze

Local Run Manager

Application Notes

Confirming cystic fibrosis diagnosis in newborns using TruSight Cystic Fibrosis

Related applications and methods

Molecular Diagnostics

Illumina offers next-generation sequencing-based molecular diagnostic options for clinical laboratories.

Cystic fibrosis testing

FDA-cleared next-generation sequencing panels for detection of causative and clinically relevant variants for cystic fibrosis.

Targeted resequencing

With targeted resequencing, a subset of genes or a genomic region is isolated and sequenced, which can conserve lab resources.

Documentation

Product literature

Confirming cystic fibrosis diagnosis in newborns using TruSight Cystic Fibrosis
Application note PDF < 1 MB

TruSight Cystic Fibrosis FAQ
FAQ Document PDF < 1 MB

- English
- French
- Italian
- German
- Spanish
Data sheet PDF < 1 MB 5 versions

Support documentation

Cystic Fibrosis Clinical Sequencing Assay Physician Insert Documentation

Local Run Manager CF 139-Variant 2.0 Analysis Module Software Release Notes Documentation

TruSight Cystic Fibrosis Package Insert Documentation

Local Run Manager Cystic Fibrosis Clinical Seq 2.0 Micro Workflow Guide Documentation

Local Run Manager CF Clinical Seq 2.0 Analysis Module Software Release Notes Documentation

Cystic Fibrosis 139-Variant Assay Physician Insert Documentation

Local Run Manager CF 139-Variant 2.0 Micro Analysis Module Guide Documentation

Local Run Manager CF 139 Variant Analysis Module Software Guide Documentation

Local Run Manager CF Clinical Sequencing Analysis Software Guide Documentation

MiSeqDx Reagent Kit v3 Micro Package Insert Documentation

All TruSight Cystic Fibrosis Support Documentation

All TruSight Cystic Fibrosis Support

All TruSight Cystic Fibrosis Support Documentation Support

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)4 and in 2011 by the American College of Obstetricians and Gynecologists (ACOG).5

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.

Figures

CFTR regions sequenced with TruSight Cystic Fibrosis Clinical Sequencing Assay

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.

Clinically relevant CFTR variants on TruSight Cystic Fibrosis 139-Variant Assay

TruSight Cystic Fibrosis 139-Variant Assay detects 139 clinically relevant CFTR variants¹

Mutations in the ACMG-23 list for CF screening
R347P	1717-1G>A	3849+10kbC>T
G85E	G542X	W1282X
R117H	G551D	711+1G>T
621+1G>T	R553X	R560T
R334W	2184delA	1898+1G>A
A455E	2789+5G>A	N1303K
I507del	3120+1G>A	R1162X
F508del	3659delC

Only a subset of variants included in the assay are listed. To view the full list of variants in the TruSight Cystic Fibrosis 139-Variant Assay, visit www.illumina.com/ TruSightCysticFibrosis.

TruSight Cystic Fibrosis Performance

TruSight Cystic Fibrosis 139-Variant Assay
Characteristic	PA^a	NA^b	OA^c
Accuracy	100%	> 99.99%	> 99.99%
Reproducibility	99.77%	99.88%	99.88%

TruSight Cystic Fibrosis Clinical Sequencing Assay
Characteristic	PA^a	NA^b	OA^c
Accuracy	99.66%	> 99.99%	> 99.99%
Reproducibility	99.22%	99.70%	99.70%

a. Positive Agreement (PA) is the number of samples with agreeing variant calls divided by the total number of samples with that variant as identified by the reference method.

b. Negative Agreement (NA) calculated across all wild-type (WT) positions by dividing the number of concordant WT positions by the total number of WT positions as defined by the reference methods.

c. Overall Agreement (OA) calculated across all reported positions by dividing the number of concordant wild-type and variant positions by the total number of reported positions as determined by the reference methods.

Library prep (1)

TruSight Cystic Fibrosis Library Prep

20036925

Supports both the TruSight Cystic Fibrosis 139-Variant Assay...

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Reagents (2)

MiSeq Dx Reagent Kit v3

20037124

Includes one flow cell and one prefilled cartridge containin...

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MiSeq™Dx Reagent Kit v3, Micro

20063860

Includes one micro flow cell and one pre-filled cartridge co...

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Accessory products (2)

TruSeq Index Plate Fixture Kit (2 fixtures)

FC-130-1005

Assists in correctly arranging index primers for PCR amplifi...

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TruSeq Index Plate Fixture & Collar Kit (2 each)

FC-130-1007

Assists in correctly arranging index primers for PCR amplifi...

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FAQs

TruSight Cystic Fibrosis 139-Variant Assay detects 139 variants in the CFTR gene for carrier screening, confirmatory diagnostic testing of newborns and children, and initial diagnostic testing.

TruSight Cystic Fibrosis Clinical Sequencing Assay re-sequences the protein coding region and intron/exon boundaries of the CFTR gene for aiding in diagnosis, testing in atypical presentations and when other panels do not identify both causative mutations.

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1. Clinical and Functional Translation of CFTR. www.cftr2.org. Accessed August 2013.

2. 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. doi:10.1038/ng.2745

3. 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. doi:10.1002/humu.22927

4. 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. doi:10.1097/01.gim.0000139506.11694.7c

5. Committee on Genetics. The American College of Obstetricians and Gynecologists Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstet Gyncol. 2011;486:1-4. doi:https://pubmed.ncbi.nlm.nih.gov/21422883/

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TruSight Cystic Fibrosis

TruSight Cystic Fibrosis

TruSight Cystic Fibrosis

TruSight Cystic Fibrosis

TruSight Cystic Fibrosis

Overview

TruSight Cystic Fibrosis 139-Variant Assay

TruSight Cystic Fibrosis Clinical Sequencing Assay

Specifications

Required Products

Applications

Example workflow

Prep

Sequence

Analyze

Application Notes

Related applications and methods

Documentation

Product literature

Support documentation

Intended use

Figures

Library prep (1)

Reagents (2)

Accessory products (2)

Selection summary

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TruSight Cystic Fibrosis

TruSight Cystic Fibrosis

TruSight Cystic Fibrosis

Overview

TruSight Cystic Fibrosis 139-Variant Assay

TruSight Cystic Fibrosis Clinical Sequencing Assay

Specifications

Required Products

What products do I need?

FAQs

How do the two assays included in TruSight Cystic Fibrosis differ?

Can a single library prep be used for both CF assays on TruSight Cystic Fibrosis?

Can I do reflex testing from one assay to the other?

How many tests can I run per flow cell?

NovaSeq X Series ordering

MiSeq Reagent Kit v3

TruSight Oncology 500

Illumina DNA Prep

Speak with a specialist

TruSight Cystic Fibrosis Clinical Sequencing Assay 