ATP7B Mutation Detection Kit with Next Generation Sequence Analysis
Wilson’s disease is an autosomal recessive inherited copper metabolism disorder characterized by impaired liver function or neurological or psychiatric disorders. Recurrent jaundice, an acute hepatitis like manifestation, autoimmune hepatitis, fulminant hepatic failure or chronic liver disease may occur due to the damage occurring in liver. Neurological expressions of Wilson’s disease include movement disorders such as tremors, chorea, choreatetosis, mask face or rigidity. Again, depression, neurotic behaviour, personality disorders and often intellectual disability can occur in these patients. Inappropriate copper accumulation in many tissues and organs of the body is the reason for this clinical situation.
Biallelic mutations in the ATP7B gene in the cases that are thought to be Wilson’s disease with clinical findings are the molecular cause of the disease. Sequence analysis of all coding regions of the ATP7B gene is recommended for confirmation of diagnosis. More than 800 different mutations have been identified in this gene to date.