Wilson Disease

Test Description:

Wilson disease is a disorder caused by mutations in the gene ATP7B, which encodes a protein that plays a role in copper transport. Mutations in this gene result in the toxic accumulation of copper in different tissues in the body, particularly the liver and the nervous system. Copper accumulation in the eyes may cause Kayser-Fleischer rings in some patients. Liver disease includes cirrhosis caused by chronic hepatitis, leading to liver failure. Copper depositions in the nervous system can cause neurologic symptoms including changes in behavior, parkinsonism, ataxia and dystonia, and psychiatric symptoms including anxiety, depression and psychosis. Diagnosis is often made in adults, although children with liver disease may be diagnosed as well. Treatment involves chelation to remove excess copper from the body with possible liver transplantation in patients with liver disease unresponsive to treatment. In the Ashkenazi Jewish community, where the carrier frequency has been determined to be approximately 1 in 67, patients have been found to carry the mutations p.E1064A, p.H1069Q, and p.M645R. Testing for these three mutations, along with the p.R778L mutation, is expected to identify approximately 85% of carriers with Ashkenazi Jewish ancestry.

Full gene sequencing is available for reproductive partners of known mutation carriers. Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.


1. Kalinsky H, Funes A, Zeldin A, Pel-Or Y, Korostishevsky M, Gershoni-Baruch R, Farrer LA, Bonne-Tamir B. Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. Hum Mutat. 199811(2):145-51.

Specimen Requirements


Two 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top).


Chorionic Villi: 5-10 mg in conical tube with sterile saline OR transport media
Amniotic Fluid: 10 ml in conical tube
Cultured Cells: Two confluent T-25 flasks

Additionally, please send:

5-10 ml maternal blood in EDTA (lavender top) required to perform MCC studies on all prenatal samples and in case maternal confirmation studies are necessary
5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary

Ordering Information


Ship at room temperature

Turnaround Time:

10 – 14 days

CPT Codes:


Forms and Brochures

Carrier Screening Requisition and Consent [PDF]
Expanded Ashkenazi Jewish Carrier Screening Brochure [PDF]
Ashkenazi Jewish Carrier Screening Panel