VariFind™ Neoscreen assay

Newborn Screening

Assay for DNA diagnostics of severe inherited diseases: cystic fibrosis, galactosemia and phenylketonuria.
Purpose:
genetic diagnostics of cystic fibrosis, galactosemia and phenylketonuria
in newborns and adults, carrier screening for couples planning a family
and IVF-donors.

VariFind™ Neoscreen assay is designed for detecting cystic fibrosis and galactosemia.
VariFind™ Neoscreen assay
Detailed information.
VariFind Neoscreen assay is designed for sequencing of coding and other clinically significant regions of CFTR, PAH and GALT genes, associated with cystic fibrosis, galactosemia and phenylketonuria. These monogenic diseases can be caused by hundreds of different mutations, which makes high-throughput sequencing the most appropriate and informative.
The assay allows to reveal rare, familial and de novo mutations. The variety of genetic variants (including CNVs) analyzed is almost unlimited.
Mutations analyzed
590
mutations in CFTR
43
mutations in GALT
107
mutations in PAH
Assay features
Reagents
Reagents for library preparation are delivered with the assay.
Population-independence
VariFind™ Neoscreen assay is suitable for analysis in different populations.
Software
VariFind™ Software is designed for processing
and analysis of target sequencing data and creating
a PDF-report.
Samples
Analyte for VariFind™ assays is a high-quality genomic DNA isolated from peripheral blood, saliva or dry blood spots.
Analysis
It's possible to analyse up to 96 samples per run.
CE-mark
The assay is CE-IVD marked, i.e. allowed for diagnostics in European Union.
99,34 %

Analytical sensitivity
99,72 %

Analytical specificity
99,31 %

Diagnostic sensitivity
100,00 %

Diagnostic specificity
Clinical Practice
VariFind Neoscreen assay was implemented as a second tier of newborn screening protocol in Medical Genetics Centre in St. Petersburg in 2015.
VariFind Neoscreen assay for Ion Torrent Sequencing Platform, 48 samples
VariFind Neoscreen assay for Ion Torrent Sequencing Platform, 24 samples
VariFind Neoscreen assay for MiSeq Series System, 48 samples
VariFind Neoscreen assay for MiSeq Series System, 24 samples
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