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Test Code MISCLM Wilson Disease, Full Gene Analysis

Additional Codes



Useful For

Diagnostic confirmation of Wilson disease

Testing Algorithm

See Wilson Disease Testing Algorithm in Special Instructions.

Method Name

Polymerase Chain Reaction (PCR)/DNA Sequencing

Reporting Name

Wilson Disease Full Gene Analysis

Specimen Type


Shipping Instructions

Specimen preferred to arrive within 96 hours of draw.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood


Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)

Reject Due To

No specimen should be rejected.

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly; Varies

Analytic Time

14 days

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81406-ATP7B (ATPase, Cu++ transporting, beta polypeptide) (eg, Wilson disease), full gene sequence

LOINC Code Information

Test ID Test Order Name Order LOINC Value
WDZ Wilson Disease Full Gene Analysis In Process


Result ID Test Result Name Result LOINC Value
54048 Result Summary 50397-9
54049 Result In Process
54050 Interpretation 69047-9
54051 Additional Information 48767-8
54052 Specimen 31208-2
54053 Source 31208-2
54054 Released By 18771-6


1. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.