VariFind™ Neoscreen assay
NGS-based assay for testing of cystic fibrosis, phenylketonuria and galactosemia

Intended use: genetic diagnosis of newborns in multi-tier schemes carrier screening of IVF donors and couples planning family
Assay information
Genes included
CFTR, PAH, GALT
Analyzed region
All exons and splicing sites, clinically significant variants from deep intronic and promoter regions
Target region size
22 kb
Specific features
Included to design: CFTRdele2-3, EX5del4232ins268, PAHdele5*
Detects poly-T/TG-repeats
*do not require confirmation via MLPA
Platform
Illumina MiSeq Series
Thermo Fisher Scientific Ion PGM/S5
Product composition
Reagents kit
Targeted enrichment , library preparation, molecular barcoding
VariFind™ Software for
MPS data analysis & variants annotation
Assay workflow
NGS Libraries Preparation
Sequencing
Automated data analysis & annotation
Report generation
Made on
Tilda