The Invitae Wilson Disease Test analyzes the ATP7B gene, pathogenic variants in which can cause decreased biliary excretion of copper, reduced incorporation of copper into apoceruloplasmin, and the overall accumulation of copper in the body.
Affected individuals present with low serum copper and ceruloplasmin levels and increased urinary copper excretion. Molecular genetics are necessary to confirm the diagnosis of Wilson disease. Medical management with chelating agents and zinc are useful to reduce symptoms. Liver transplantation is undertaken for patients who are not responsive to medical management.
Wilson disease is a disorder of copper metabolism. Patients suspected of having Wilson disease often have liver disease (40%), neurologic disease (40%), and psychiatric disturbance (20%); most have the eye finding of Kayser Fleischer rings. Diagnosis can occur during a wide range of ages; most often, it is between 6 and 50 years of age. Younger patients are often identified due to liver disease. Other findings include renal involvement, arthritis, osteoporosis, pancreatitis, cardiomyopathy, and sunflower cataracts. Hepatocellular carcinoma rarely develops.
Affected individuals present with increased urinary copper excretion and low serum copper and ceruloplasmin levels. Molecular genetics are necessary to confirm a diagnosis of Wilson disease. Medical management with chelating agents and zinc are useful to reduce symptoms. Liver transplantation is undertaken for patients who are not responsive to medical management.
For patients with clinical symptoms of Wilson disease, sequence variants in the gene ATP7B are identified in more than 98% of patients. Deletions/duplications in this gene are rare.
Wilson disease is inherited in an autosomal recessive pattern.
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Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|