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Test Code
ATP7B
Test Name
ATP7B Sequencing, Wilson Disease
CPT Codes
81406
Expected Turnaround Time
10 - 15 days
Clinical Utility

Preferred test for genetic confirmation of Wilson disease or determination of carrier status.
Specimen and Container Info

Specimen Type: Whole Blood

Collection Container: Lavender Top (EDTA)

Alternate Collection Container: Pale Yellow Top (ACD, Solution A or B)

Desired Specimen Volume: 3 mL
Collection Instructions
  1. Collect a lavender top (EDTA) tube via venipuncture.
  2. Fill tube entirely with whole blood.
Processing and Submission Instructions

**Requires "Wilson Disease (ATP7B) Testing Patient History Form"**

  1. Transport 3mL of whole blood in the original collection container.
Transport Instructions

Transport to the laboratory refrigerated. 
Stability Requirements

Room Temperature

72 hours

Refrigerated

14 days
Causes for Rejection
  • Serum or plasma
  • Grossly hemolyzed
  • Frozen specimens
Methodology
Massively Parallel Sequencing
Reference Intervals

 See patient report.
Limitations

The Sardinian founder variant, c.-436_-422del15 is not evaluated, and deletion/duplication analysis is not available for this gene.
Alternate Names
  • Hepatolenticular Degeneration
Reference Lab
ARUP Laboratories
Testing Schedule
Varies
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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