VariFind™ CFTR Assay
NGS-based assay for testing of clinically significant variants in CFTR gene associated with cystic fibrosis

Intended use: genetic diagnosis of newborns in multi-tier schemes
Assay information
Genes included
Analyzed region
All exons and splicing sites, clinically significant variants from deep intronic and promoter regions
Target region size
12 kb
Specific features
Included to design: CFTRdele2-3
Detects poly-T/TG-repeats
*do not require confirmation via MLPA
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
Automated data analyis & annotation
Report generation
Made on