5 doctors weighed in:
What genetic testing is currently available for wilson disease?
5 doctors weighed in

Dr. Ed Friedlander
Pathology
2 doctors agree
In brief: ATP7B
This is routine and is available upon request from the major gene labs.

In brief: ATP7B
This is routine and is available upon request from the major gene labs.
Dr. Ed Friedlander
Dr. Ed Friedlander
Thank
Dr. Steven Neish
Pediatrics - Cardiology
In brief: Mutation analysis
Wilson disease is caused by mutations in the atp7b gene.
This gene codes for a protein called copper-transporting atpase 2. Typical inheritance is autosomal recessive, meaning you must have an abnormal copy of the gene from each parent. Genetic testing is available.

In brief: Mutation analysis
Wilson disease is caused by mutations in the atp7b gene.
This gene codes for a protein called copper-transporting atpase 2. Typical inheritance is autosomal recessive, meaning you must have an abnormal copy of the gene from each parent. Genetic testing is available.
Dr. Steven Neish
Dr. Steven Neish
Thank
In brief: ATP7B gene
Initial screens include levels of ceruloplasmin and copper in the blood, but a liver biopsy is usually required.
Once that is "positive, " then a mutation analysis of the atp7b gene, along with other genes linked to copper accumulation in the liver, can be performed.

In brief: ATP7B gene
Initial screens include levels of ceruloplasmin and copper in the blood, but a liver biopsy is usually required.
Once that is "positive, " then a mutation analysis of the atp7b gene, along with other genes linked to copper accumulation in the liver, can be performed.
Dr. Lester Thompson
Dr. Lester Thompson
Thank
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