Wilson disease is most commonly caused by mutations in the ATP7B gene. The most commonly seen mutation is H1069Q, accounting for 37-63% of mutations in Caucasians. The mutation R778L accounts for 57% of Wilson disease alleles in the East Asian population. There are more than 370 mutations reported worldwide.
Sample Daily by 11 am ; Report 2 months
Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
4 mL (2 mL min.) whole blood in 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.