TruSight Cystic Fibrosis （日本未発売）

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 （日本未発売）

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 （日本未発売）

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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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
Figures

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

アッセイ時間	2.5日
ハンズオンタイム	3.5時間
インプット量	250 ng ゲノムDNA
システム	MiSeqDx
手法	ターゲットDNAシーケンス, アンプリコンシーケンス
核酸の種類	DNA
サンプルスループット	シーケンスランあたり24～96サンプル
生物種カテゴリー	ヒト
テクノロジー	シーケンス

Required Products

TruSight Cystic Fibrosis Library Prep, which includes the necessary library prep reagents and indexes to support 96 samples
MiSeqDx Reagent Kit v3 or MiSeqDx Reagent Kit v3, Micro (for running a smaller batch size of 24-36 samples)
MiSeqDx Instrument

Optional products:

TruSeq Index Plate Fixture Kit (2 fixtures)
TruSeq Index Plate Fixture & Collar Kit (2 each)

Showing 1 - 1 / 1 件

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

MiSeqDx Reagent Kit v3, Micro

Analyze

Application Notes

Confirming cystic fibrosis diagnosis in newborns using TruSight Cystic Fibrosis

Related applications and methods

Molecular Diagnostics

イルミナは、次世代シーケンサーを用いたアッセイ開発を提供しています。

Cystic fibrosis testing

The MiSeqDx Cystic Fibrosis System uses next-generation targeted sequencing to identify mutations within the CFTR gene. It is the first and only FDA-cleared in vitro diagnostic (IVD) NGS platform. *日本未発売

Targeted resequencing

ターゲットリシーケンスでは、遺伝子のサブセットまたはゲノム領域を単離しシーケンスすることで、ラボのリソースを節約できます。

Documentation

製品資料

Confirming cystic fibrosis diagnosis in newborns using TruSight Cystic Fibrosis
アプリケーションノート PDF < 1 MB

TruSight Cystic Fibrosis FAQ
FAQ Document PDF < 1 MB

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データシート PDF < 1 MB 5 バージョン

Support documentation

嚢胞性線維症臨床シーケンスアッセイ医師用インサート

Cystic Fibrosis Clinical Sequencing Assay Physician Insert

TruSight嚢胞性線維症添付文書

Cystic Fibrosis 139-Variant Assay Physician Insert

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

Local Run Manager CF Clinical Sequencing Analysis Software Guide

MiSeqDx Reagent Kit v3 Micro添付文書

TruSight CF Local Run Managerソフトウェアガイド

All TruSight Cystic Fibrosis Support

All TruSight嚢胞性線維症サポート 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.

ライブラリー調製 (1)

TruSight Cystic Fibrosis Library Prep

20036925

TruSight Cystic Fibrosis 139-Variant AssayとTruSight Cystic F...

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試薬 (2)

MiSeqDx 試薬キット（MiSeq Dx Reagent Kit v3）

20037124

医療機器届出済みのMiSeqDx システム上で1回のサンプルライブラリーランをサポートする、クラスターおよびシーケンス試...

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MiSeq™Dx Reagent Kit v3, Micro

20063860

TruSight Cystic Fibrosis Library Prepを使用する場合、MiSeqDx システム24～...

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アクセサリー製品 (2)

TruSeq Index Plate Fixture Kit (2 fixtures)

FC-130-1005

PCR増幅ステップ用のインデックスプライマーの正しい配置を支援します。TruSeqインデックスプレートフィクスチャー（2...

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TruSeq Index Plate Fixture & Collar Kit (2 each)

FC-130-1007

PCR増幅ステップ用のインデックスプライマーの正しい配置を支援します。TruSeqインデックスプレートフィクスチャー（2...

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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.

Yes, prepared libraries stored as diluted amplicon libraries (DALs) can be used up to 28 days after preparation when stored frozen. There is no difference between libraries prepared for use in the TruSight Cystic Fibrosis 139-Variant Assay and TruSight Cystic Fibrosis Clinical Sequencing Assay.

Yes, you can do reflex testing from the TruSight Cystic Fibrosis 139-Variant Assay to the TruSight Cystic Fibrosis Clinical Sequencing Assay when the patient has an atypical or nonclassical presentation of CF or when other mutation panels have failed to identify both causative mutations.

Both TruSight Cystic Fibrosis assays have been designed to run with the MiSeqDx Reagent Kit v3. The MiSeqDx v3 sequencing flow cell has been validated to support 24-96 tests of each assay per sequencing run. The MiSeqDx Reagent Kit v3, Micro supports batches of 24-36 samples. TruSight Cystic Fibrosis has been validated to support a minimum of 24 samples per flow cell run.

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Frequently purchased
Other products to consider

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 （日本未発売）

TruSight Cystic Fibrosis （日本未発売）

TruSight Cystic Fibrosis （日本未発売）

TruSight Cystic Fibrosis （日本未発売）

TruSight Cystic Fibrosis （日本未発売）

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

製品資料

Support documentation

Intended use

Figures

ライブラリー調製 (1)

試薬 (2)

アクセサリー製品 (2)

選択中の製品一覧

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FAQs

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TruSight Cystic Fibrosis （日本未発売）

TruSight Cystic Fibrosis （日本未発売）

TruSight Cystic Fibrosis （日本未発売）

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シリーズのご購入

MiSeq Reagent Kit v3

TruSight Oncology 500

Illumina DNA Prep

Speak with a specialist

TruSight Cystic Fibrosis Clinical Sequencing Assay 