Preferred test for genetic confirmation of Wilson disease or determination of carrier status.
- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics: Wilson disease is a disorder of copper metabolism caused by mutations in the ATP7B gene. Toxic accumulation of copper in body tissues, particularly the liver and central nervous system, causes progressive disease that is eventually lethal if untreated. The clinical presentation of Wilson disease is highly variable and age-dependent. Symptoms, including Kayser-Fleisher rings, liver disease, neurologic findings, and psychiatric disease, may present at any time from early childhood to late adulthood.
Inheritance: Autosomal recessive.
Cause: Pathogenic ATP7B gene mutations.
Clinical Sensitivity: 98 percent.
Methodology: Bidirectional sequencing of the entire ATP7B coding region and intron/exon boundaries.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected. Mutations in genes other than ATP7B are not evaluated.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2010717||ATP7B Sequencing Specimen||31208-2|
|2010718||ATP7B Sequencing Interpretation||21626-7|
- ATP7B, Wilson Disease, Copper