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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.

この製品は出荷できる国が制限されています。 出荷の可否を確認するには、 出荷する国を選択してください 。

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.  

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)
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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

1
Prep

TruSight Cystic Fibrosis 139-Variant Assay

TruSight Cystic Fibrosis Clinical Sequencing Assay

2
Sequence

MiSeqDx Reagent Kit v3, Micro

3
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

ターゲットシーケンスまたはリシーケンスでは、遺伝子のサブセットまたは関心のあるゲノム領域が単離され、シーケンスされるため、ラボのリソースを節約できます。

Documentation

製品資料
Support documentation

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 PAa NAb OAc
Accuracy 100% > 99.99% > 99.99%
Reproducibility 99.77% 99.88% 99.88%
TruSight Cystic Fibrosis Clinical Sequencing Assay
Characteristic PAa NAb OAc
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 Fibrosis Clinical Sequencing Assayの両方をサポートします。96の末梢全血サンプルから単離されたゲノムDNAのライブラリー調製用試薬が含まれます。MiSeqDxシーケンス試薬は別売りです。

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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薬を含むフローセル1個とプレフィルドカートリッジ1個が含まれます。

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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24～36の調製済みライブラリーをサポートするクラスター試薬とシーケンス試薬を含むマイクロフローセル1個とプレフィルドカートリッジ1個が含まれます。

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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個）が含まれます。

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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個）とプレートカラー（2個）が含まれます。

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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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MiSeq Reagent Kit v3

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Nextera XT DNA Library Preparation Kit

低DNAインプット要件で、小規模ゲノム、PCR アンプリコン、プラスミド、cDNA シーケンス用のDNAライブラリーを調整するための90分のワークフローを提供します。

MiSeqDx 試薬キット

医療機器届出済みのMiSeqDx システム（届出番号 13B1X10303000002）シーケンス試薬。以前のバージョンと比較して、クオリティスコアが向上しています。

References:

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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