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.
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: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Hotline History
CPT Codes


Component Test Code* Component Chart Name LOINC
2010717 ATP7B Sequencing Specimen 31208-2
2010718 ATP7B Sequencing Interpretation 21626-7
* 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
  • Copper
  • Wilson Disease
Wilson Disease (ATP7B) Sequencing