- Wilson disease is a genetic disorder that is associated with an accumulation of copper in the body, excess copper causes many adverse reactions and can be life threatening. Wilson’s disease is caused by changes in the ATP7B gene, changes in this gene can be detected using two different technologies (NGS and MLPA). Wilson’s disease can affect individuals of all ages and is inherited in an autosomal recessive manner.
- The Igenomix Wilson Disease Precision Panel can be used to make a directed and accurate differential diagnosis of copper overload, ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The Igenomix Wilson Disease Precision Panel is indicated for those patients with a clinical suspicion or diagnosis of Wilson’s Disease presenting with the following manifestations:
- Yellow skin (jaundice)
- Eye discoloration
- Chronic active hepatitis
- Fulminant hepatic failure
- Fluid build-up in the body
- Spasms or muscle stiffness
- Coordination difficulties
- Neuropsychiatric alterations
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team for early pharmacologic chelation therapy, surgical decompression, and dietary modifications.
- Risk assessment of asymptomatic family members according to the mode of inheritance.
Genes & Diseases
|GENE||OMIM DISEASES||INHERITANCE*||% GENE COVERAGE (20X)||HGMD**|
|ATP7B||Wilson Disease||AR||99.97%||989 of 1000|
*Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial.
**Number of clinically relevant mutations according to HGMD
Członkowska, A., Litwin, T., Dusek, P., Ferenci, P., Lutsenko, S., Medici, V., Rybakowski, J. K., Weiss, K. H., & Schilsky, M. L. (2018). Wilson disease. Nature reviews. Disease primers, 4(1), 21. https://doi.org/10.1038/s41572-018-0018-3
Bandmann, O., Weiss, K. H., & Kaler, S. G. (2015). Wilson’s disease and other neurological copper disorders. The Lancet. Neurology, 14(1), 103–113. https://doi.org/10.1016/S1474-4422(14)70190-5
Mulligan C, Bronstein JM. Wilson Disease: An Overview and Approach to Management. Neurol Clin. 2020 May;38(2):417-432. doi: 10.1016/j.ncl.2020.01.005. Epub 2020 Feb 28. PMID: 32279718.