Wilson Disease (ATP7B) Sequencing
2010716
Ordering Recommendation
Preferred test for genetic confirmation of Wilson disease or determination of carrier status.
Mnemonic
ATP7B FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 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
  
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report  
Interpretive Data
Background Information for Wilson Disease (ATP7B) Sequencing:
Characteristics:
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
Inheritance:
Autosomal recessive.
Penetrance:
Age-dependent.
Cause:
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.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Note
 
CPT Code(s)
81406
Components
Component Test Code*Component Chart Name
2010717ATP7B Sequencing Specimen
2010718ATP7B Sequencing Interpretation
* 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.
Aliases
  • ATP7B, Wilson Disease, Copper