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

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
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.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

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

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81406

Components

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.

Aliases

  • ATP7B
  • Copper
  • Wilson Disease
Wilson Disease (ATP7B) Sequencing