ISSN Print 2500–1094
ISSN Online 2542–1204
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
Copyright: © 2026 by the authors. Licensee: Pirogov University.
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).
ORIGINAL RESEARCH
NGS technology as a tool for the Wilson’s disease diagnosis and severity assessment
About authors
1 Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia
2 Petrovsky Russian Scientific Center for Surgery, Moscow, Russia
3 Moscow Scientific and Practical Center for Laboratory Research, Moscow, Russia
4 Ott Research Institute of Obstetrcis, Gynecology and Reproductive Medicine, St. Petersburg, Russia
5 Federal Scientific and Clinical Center for Infectious Diseases of the Federal Medical Biological Agency, St. Petersburg, Russia
6 State Scientific Center of the Russian Federation — Federal Medical Biophysical Center named after A. I. Burnazyan, Moscow, Russia
Correspondence should be addressed: Inna G. Tuluzanovskaya
Yelansky, 2, bld. 2, 119435, Moscow, Russia; ur.liam@77t_anni
About paper
Author contribution: Balashova MS — follow-up of patients, NGS data analysis, manuscript writing; Zhuchenko NA — literature review and analysis, manuscript writing; Tuluzanovskaya IG — follow-up of patients, literature analysis and processing, manuscript writing; Glotov OS — molecular genetic testing data preparation, manuscript editing; Senina OS — data entry, manuscript writing; Ignatova TM — literature analysis, manuscript editing; Asanov AYu — literature analysis, manuscript writing and editing.
Compliance with ethical standards: the study was approved by the Ethics Committee of the Sechenov University (protocol No. 07-23 dated 27 April 2023). All subjects or their legall representatives submitted the informed consent for participation in the study.
Received: 2026-02-24
Accepted: 2026-03-11
Published online: 2026-04-01
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Fig. Patients’ age of disease onset
Table 1. Dynamic changes in the disease course
Table 2. ATP7B gene variants identified
Note: adapted from [11].
Table 3. Distribution of patients when divided into groups based on the nucleotide sequence potential effect
Table 4. Informational value depending on the scope of genetic testing
