Test Catalog

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Test ID: WDZ    
Wilson Disease, Full Gene Analysis, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnostic confirmation of Wilson disease

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Ceruloplasmin, serum copper, and urine copper studies are recommended prior to submitting sample. Test includes next-generation sequencing of exons 1 through 21 and for the common Sardinian promoter mutation. Sanger sequencing may be performed to confirm detected variants.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Wilson Disease Testing Algorithm in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

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

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Wilson Disease Full Gene Analysis

Aliases Lists additional common names for a test, as an aid in searching

ATP7B gene
WDMS
Next Gen Sequencing Test