Genodiagnostics of Wilson's disease (ATP7B gene mutations)

Wilson's disease (WD) is a severe progressive hereditary disorder transmitted in an autosomal recessive manner. It is caused by various types of genetic mutations in the ATP7B gene, which lead to excessive accumulation of copper ions in the liver parenchyma, brain, and other organs, resulting in structural and functional disorders of organs and systems. The most common mutation in WD in the Slavic population is H1069Q, which is observed in 30-50% of all cases in a homozygous or heterozygous state (compound) with another genetic aberration of the ATP7B gene.

Within 10 days. The specified time does not include the day of biomaterial collection