Preferred test for genetic confirmation of Wilson disease or determination of carrier status.
Massively Parallel Sequencing
New York DOH Approval Status
Lavender (EDTA) or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
Serum or plasma; grossly hemolyzed or frozen specimens
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. This test was performed in a CLIA-certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
Gene tested: ATP7B (NM_000053)
The Sardinian founder variant, c.-436_-422del15 is not evaluated, and deletion/duplication analysis is not available for this gene.
|Component Test Code*||Component Chart Name||LOINC|
|3004412||Wilson Disease (ATP7B) Specimen|
|3004413||Wilson Disease (ATP7B) Interp|
- hepatolenticular degeneration
- Wilson disease