Wilson Disease Mutation Screen, ATP7B DNA Sequencing
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
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
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.
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Wilson Disease Mutation Screen