COMPANY
PRODUCTS
SERVICES
CONTACTS
SUPPORT
NGS library preparation
DNA and RNA isolation
Storage and data analysis
Inherited disorders
HLA-typing
VariFind™
PARallele™
Prep&Seq™
Genome Server™
PureCode™
Modular library preparation
DNA and RNA isolation
Inherited disorders test systems
HLA-typing test system
Servers for genomic data
About
News
Blog
Career
⠀⠀⠀⠀A test system for identifying mutations associated with cystic fibrosis, phenylketonuria and galactosaemia using next-generation high-throughput sequencing.

⠀⠀⠀⠀ Contains library preparation reagents and access to VariFind™ Software for data analysis.

VariFind™ Neoscreen assay

For research use only
Complete turnkey solution
Library preparation reagents

VariFind™ Software
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
⠀⠀⠀⠀Cystic fibrosis, phenylketonuria and galactosemia are severe and relatively frequent hereditary diseases that lead to systemic disorders in the body. These monogenic diseases can be caused by hundreds of different mutations in a single gene, which makes the high-throughput sequencing method the most informative for their study. Detection of mutant variants of the CFTR, PAH and GALT genes in a child or carrier in parents allows genetic counseling for further diagnosis or reproductive manipulation.
Gene
Associated diseases
CFTR
Mucoviscidosis
GALT
Galactosemia
PAH
Phenylketonuria
Features
Specifications
Number of genes
3
Analyzed regions
Сoding DNA sequences (CDSs), exon-intron boundaries, 3'- and 5'-untranslated regions (UTRs), and some deep intronic regions that contain clinically relevant variants. The target regions of the GALT gene additionally include all intronic regions.
Limitations
The kit is not designed to detect CNV (except CFTRdele2-3), extended STR and homopolymer variants, 6 rare pathogenic variants located in deep intronic regions of the CFTR gene.
Analyte
DNA isolated from peripheral blood, dry blood spots
Number of amplicons
128 (2 pool)
Recommended number of reads per sample

64 000

Biological identifier (BID)*
Included
Time to results
from 26 to 34 hours
Compatible platforms
Illumina и Thermo Fisher Scientific
Ordering information
VariFind™ Neoscreen assay kit, 24 reactions
Cat.No. VF-NEOS-24RU
Contents: reagent kit for targeted amplification and library preparation, access to VariFind™ Software.
Additionally required: VariFind MultiOligos platform-specific adapters and indexes.
VariFind™ Neoscreen assay kit, 48 reactions
Cat.No. VF-NEOS-48RU
Contents: reagent kit for targeted amplification and library preparation, access to VariFind™ Software.
Additionally required: VariFind MultiOligos platform-specific adapters and indexes.
Enter the lot number 
(It is listed on the front of the box)
If you do not have a kit but would like to get a manual, please contact us
Product highlights
VariFind™ MultiOligos IL Platform
Indexed primer and universal adapter kits for Illumina platforms in test tubes. Compatible with all VariFind™ test systems
Learn more
VariFind™ MultiOligos IT Platform
Barcoded adapter and universal primer kits for Thermo Fisher Scientific platforms in test tubes. Compatible with all VariFind™ test systems