Wilson Disease (ATP7B) Sequencing
Ordering Recommendation

Preferred test for genetic confirmation of Wilson disease or determination of carrier status.

Polymerase Chain Reaction/Sequencing
14-28 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for Wilson Disease (ATP7B) Sequencing:
Wilson disease is a disorder of copper metabolism caused by mutations in the ATP7B gene. Toxic accumulation of copper in body tissues, particularly the liver and central nervous system, causes progressive disease that is eventually lethal if untreated. The clinical presentation of Wilson disease is highly variable and age-dependent. Symptoms, including Kayser-Fleisher rings, liver disease, neurologic findings, and psychiatric disease, may present at any time from early childhood to late adulthood.
Incidence: 1/30,000-1/50,000
Autosomal recessive.
Penetrance: Age-dependent.
Pathogenic ATP7B gene mutations.
Clinical Sensitivity: 98 percent.
Methodology: Bidirectional sequencing of the entire ATP7B coding region and intron/exon boundaries.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected. Mutations in genes other than ATP7B are not evaluated.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Component Test Code*Component Chart NameLOINC
2010717ATP7B Sequencing Specimen31208-2
2010718ATP7B Sequencing Interpretation21626-7
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • ATP7B, Wilson Disease, Copper