Pathogenic mutations in G-6-PD gene

Partner

 

ZenTech is a Belgian biotech company specialized in the diagnosis of pathologies arising in the early life stages. ZenTech develops, produces and sales immunoassay screening IVD kits based on modern technologies and proposes diferent services on a full automatic platform.ZenTech’s commercial network extends to South America,India, China, Philippines, Africa, … for promoting the largest panel of IVD kits for the newborn screening (NBS) program.

Project

The project, in relationships with the ZenTech newborn screening development, DNAlytics was requested to identify pathogenic Single Nucleotide Polymorphisms (SNPs) for the G-6-PD gene, associated with blood cell disorders.

Results

On the basis of its proprietary toolbox BLISS (Biomarker List Interpretation Simple Software : www.dnalytics.com/software/bliss), DNAlytics has scrutinized publicly available databases such as ClinVar, KEGG and 1000 Genomes, to identify all known variants of the gene G-6-PD. These variants have been sorted out in diferent categories, in view of extracting the variants with pathogenic significance.

G-6-PD screening is now part of the routine newborn diagnosis kits commercialized by Zentech.

"It was a pleasure to work with DNAlytics in the development of Zentech’s G-6-PD screening test : their data mining tools proved very efficient for processing large databases and working out scientifically relevant conclusions.
Such critical contribution helped us gaining significant time and reaching the market ahead of our schedule."



 Alain BOSSELOIR,
 Chief Operating Officer 
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