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Test Code WDZ Wilson Disease, Full Gene Analysis, Varies

Useful For

Diagnostic confirmation of Wilson disease

Testing Algorithm

See Wilson Disease Testing Algorithm in Special Instructions.

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate

Reporting Name

Wilson Disease Full Gene Analysis

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

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.

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly; Varies

Performing Laboratory

Mayo Clinic 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

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 82939-0
54050 Interpretation 69047-9
54051 Additional Information 48767-8
54052 Specimen 31208-2
54053 Source 31208-2
54054 Released By 18771-6

Forms

1. 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.

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

3. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Inborn Errors of Metabolism Test Request (T798)

-Gastroenterology and Hepatology Client Test Request (T728)