Invitae Wilson Disease Test
Use
The Invitae Wilson Disease Test is used to analyze pathogenic variants in the ATP7B gene, which can cause decreased biliary excretion of copper, reduced incorporation of copper into apoceruloplasmin, and the overall accumulation of copper in the body. This test helps confirm a diagnosis of Wilson disease, a disorder of copper metabolism. Affected individuals often exhibit symptoms such as liver disease, neurologic disease, psychiatric disturbances, and the eye finding of Kayser Fleischer rings. Early diagnosis can facilitate medical management with chelating agents and zinc, and indicate when liver transplantation is necessary.
Special Instructions
Not provided.
Limitations
This test involves full-gene sequencing and deletion/duplication analysis using NGS, but does not analyze variants falling outside the coding exons or those in complex sequence architectures. Structural rearrangements may not be detected, and single-exon copy number events might not be analyzed in rare situations. Mosaicism, phasing, or mapping ambiguity cannot always be completely resolved.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
ATP7B
Gene
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
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