Wilson’s Disease Serum

About Wilson’s Disease Serum

Wilson’s Disease Serum for Copper Metabolism and Monogenic Liver Disease Research

Our Wilson’s Disease Serum is sourced from IRB-consented donors clinically diagnosed with Wilson’s disease. Each sample is processed and frozen within 24 hours of collection to preserve copper-handling proteins, liver function analytes, and other labile markers. Wilson’s disease is a monogenic autosomal recessive disorder caused by loss-of-function variants in ATP7B, the copper-transporting ATPase responsible for loading copper onto ceruloplasmin and for biliary copper excretion.

Why Wilson’s Disease Serum

• Defined molecular defect:ATP7B loss of function impairs biliary copper excretion, causing progressive hepatic copper accumulation and, later, release of copper into the circulation and deposition in brain, cornea, and other tissues.
• Serum is the right matrix for the classic biochemical signature: low serum ceruloplasmin together with low total serum copper and an elevated non-ceruloplasmin-bound (“free”) copper fraction is the pattern that defines the disease biochemically.
• Multi-system phenotype: donors present with hepatic disease (steatosis, hepatitis, cirrhosis, or acute liver failure), neurologic disease (tremor, dystonia, parkinsonism, dysarthria), and psychiatric features; Kayser-Fleischer rings reflect corneal copper deposition.
• Liver injury and synthetic function markers — transaminases, bilirubin, albumin, alkaline phosphatase — can be measured in the same serum aliquot alongside copper analytes.
• Haemolysis and oxidative stress from free copper release is a recognised feature and a target for mechanistic serum work.
• Complementary testing: 24-hour urinary copper excretion and hepatic copper quantification are the standard complements to serum testing. Those are separate specimen types and are not included with this product.

Donor Stratification Available

• ATP7B genotype and variant class where available
• Predominant presentation: hepatic, neurologic, psychiatric, or mixed
• Presence of Kayser-Fleischer rings
• Stage of liver disease, including cirrhotic versus non-cirrhotic donors
• Treatment status and modality: chelation (penicillamine, trientine), zinc therapy, treatment-naive, or post-liver transplant
• Age at diagnosis, including paediatric-onset donors
• Matched healthy controls available

Product Features

• Collected from clinically confirmed Wilson’s disease donors
• Research Use Only (RUO)
• Processed and frozen within 24 hours of collection
• IRB-approved protocols with documented consent
• Custom aliquot volumes available upon request

De-identified Donor Data

• Diagnosis confirmation
• ATP7B genotype where available
• Age, sex assigned at birth, and race/ethnicity
• Donor-reported medical history, medications, and comorbidities
• Additional Wilson’s disease-specific metadata available on request

Applications

• Serum ceruloplasmin and total copper measurement, including assay development and cross-platform comparison
• Non-ceruloplasmin-bound (exchangeable or “free”) copper method development and validation
• Liver function and hepatic injury biomarker studies in a monogenic cholestatic/hepatic model
• Biomarker discovery for treatment monitoring and over-chelation detection
• Proteomic and metabolomic profiling of copper dyshomeostasis
• Oxidative stress and haemolysis marker research
• Diagnostic algorithm and reference-interval development for rare metabolic liver disease
• Therapeutic candidate screening, including gene therapy and next-generation chelator programmes

Other Wilson’s Disease Specimen Types

Wilson’s disease donor material is also available as Wilson’s Disease Plasma, Wilson’s Disease PBMC, and Wilson’s Disease Whole Blood.

Compliance and Quality Assurance

• IRB-approved and HIPAA-compliant protocols
• Electronic informed consent with 21 CFR Part 11 – compliant e-signatures
• Documentation support available for regulatory review

Ordering & Customization

Wilson’s disease serum is available in standard and custom volumes. For pricing, international orders, or documentation requirements, please email learnmore@sanguinebio.com to ensure compatibility with your country’s regulations. For the full specimen range, see our human serum collection.