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Test Catalog

Test ID: WDKM    
Wilson Disease Known Mutation, ATP7B DNA Sequencing

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


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

Diagnostic confirmation of Wilson disease when familial mutations have been previously identified


Carrier testing of individuals when a mutation in the ATP7B gene has been identified in an affected family member.

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

Documentation of the specific familial mutations must be provided with the specimen in order to perform this test.

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 a specific mutation previously identified in an affected family member.

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

Wilson Disease Known Mutation

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

ATP7B gene