VariFind™ METAB Assay
NGS assay for 2nd tier newborn screening of inherited metabolic disorders

Intended use: Confirmative diagnostics of results received by tandem mass spectrometry

NGS-based assay for detection of clinically significant genetic variants in 20 genes associated with fatty acid β-oxidation disorders

NGS-based assay for detection of clinically significant genetic variants in 31 genes associated with aminoacidopathies

NGS-based assay for detection of clinically significant genetic variants in 31 genes associated with aminoacidopathies

NGS-based assay for detection of clinically significant genetic variants in 28 genes associated with Amino acid and vitamin B defects

NGS-based assay for detection of clinically significant genetic variants in 4 genes associated with Galactosemia and Hyperammonemia

Assay workflow
NGS Libraries Preparation
Sequencing
Automated data analyis & annotation
Report generation
Product composition
Reagents kit
Targeted enrichment , library preparation, molecular barcoding
VariFind™ Software for
MPS data analysis & variants annotation
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