WILSON DISEASE ATP7 B GENE MUTATION DETECTION

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

  • Test Type:
  • Pre-test Information:
    No Special preparation required
  • Report Delivery:
    Sample Daily by 11 am ; Report 2 months
  • Components:
    0