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Modular library preparation
DNA and RNA isolation
Inherited disorders test systems
HLA-typing test system
Servers for genomic data
A test system for identifying mutations associated with cystic fibrosis using next-generation high-throughput sequencing.
Contains library preparation reagents and access to VariFind™ Software for data analysis.
Contains library preparation reagents and access to VariFind™ Software for data analysis.
VariFind™ CFTR Assay
For research use only
Product highlights
High sensitivity and specificity
The solution is validated against samples from the National Institute of Standards and Technology (USA); the bioinformatics pipeline is validated in accordance with the recommendations of the Association for Molecular Pathology (USA).
Does not require bioinformatician
Fully automatic analysis and data quality assessment, including contamination control and sample sex determination in VariFind™ software.
Simple and fast interpretation
Proprietary mutation base annotated according to standards published by the American College of Medical Genetics and Genomics (ACMG). Links to external sources of annotation such as ClinVar, dbSNP and gnomAD databases. Ability to request a qualified annotation of a discovered new variant.
Specifications
Genes and associated diseases
Description
⠀⠀⠀⠀A test system for identifying mutations associated with cystic fibrosis using next-generation high-throughput sequencing.
Gene
Related diseases
CFTR
Mucoviscidosis
Features
Specifications
Number of genes
1
Analyzed regions
Target regions include coding DNA sequences (CDSs); splicing sites; CFTRdele2-3; poly-T/TG haplotype; 3' and 5' untranslated regions (UTRs) and some deep intronic regions.
Limitations
The kit is not intended for detection of CNV (except for CFTRdele2-3), extended STR and homopolymer variants
Analyte
DNA isolated from peripheral blood, dry blood spots, or buccal epithelium (saliva)
Number of amplicons
67 (2 pool)
Sequencing regions length, b.p.
00
Recommended number of reads per sample
00
Time to results
from 26 to 34 hours
Compatible platforms
Illumina and Thermo Fisher Scientific
Read length, b.p.
300
Biological identifier (BID)*
Included
Ordering information
VariFind™ CFTR assay, 24 reactions
Cat. No. VF-CFTR-24EN
Contents: reagent kit for targeted amplification and library preparation, access to VariFind™ Software.
Additionally required: VariFind MultiOligos platform-specific adapters and indexes.
Contents: reagent kit for targeted amplification and library preparation, access to VariFind™ Software.
Additionally required: VariFind MultiOligos platform-specific adapters and indexes.
VariFind™ CFTR assay, 48 reactions
Cat. No. VF-CFTR-48EN
Contents: reagent kit for targeted amplification and library preparation, access to VariFind™ Software.
Additionally required: VariFind MultiOligos platform-specific adapters and indexes.
Contents: reagent kit for targeted amplification and library preparation, access to VariFind™ Software.
Additionally required: VariFind MultiOligos platform-specific adapters and indexes.
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