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Test ID: WDMS    
Wilson Disease Mutation Screen, ATP7B DNA Sequencing

Secondary ID A test code used for billing and in test definitions created prior to November 2011

83697

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

Conditional

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 test or proper submission of the test request

Ceruloplasmin, serum copper, and urine copper studies are recommended prior to submitting sample. Test includes sequencing of exons 1 through 21 and analysis for the common Sardinian promoter mutation.

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

See Wilson Disease Testing Algorithm in Special Instructions.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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

Polymerase chain reaction (PCR)/DNA sequencing are utilized to test for the presence of mutations in all 21 exons and a portion of the promoter of the ATP7B gene.

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Wilson Disease Mutation Screen

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

ATP7B gene