Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81406
Test Code 
1307
Test Methods 
Sequencing
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Disorders 
Genes 

Wilson disease is characterized by hepatic symptoms (recurrent jaundice; chronic liver disease; fatty liver; simple, acute, self-limited hepatitis-like illness; autoimmune hepatitis; fulminant hepatic failure; and hemolytic anemia), neurologic presentation (movement disorders or spastic dystonia disorders) and psychiatric disturbances (depression, neurotic behaviors, disorganization of personality, and intellectial deterioration). Another common finding is Kayser-Fleischer rings (copper deposits in the periphery of the cornea), which are observed in approximately 50-60% of individuals with liver disease and in 90% of individuals with either psychiatric disturbances or neurologic findings. Currently the only gene associated with Wilson disease is ATP7B (OMIM # 606882) located at 13q14.3. Complete gene sequencing detects mutations in approximately 98% of individuals with Wilson disease.

Contact the Wilson Disease Association (www.wilsonsdisease.org) for more information and support.