VariFind™ GH Assay
NGS-based assay for detection of clinically significant genetic variants in 4 genes associated with Galactosemia and hyperammonemia
Assay information
Genes
GALK1
GALE
GALT
BTD

Disorders
Galactokinase deficiency with cataracts
Galactose epimerase deficiency
Galactosemia
Biotinidase deficiency

Analyzed region
CDSs + 20 bp padding
Target region size
15 kb
Specific features
Included to design: in GALT gene pathogenic CNV c.377+53_1059+87del
*do not require confirmation via MLPA
Number of amplicons
57 amplicons in 2 Pools
Coverage
99.9 %
Analytical sensitivity Analytical specificity
99.90%
99.90%
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