Genetic Information & Testing

    • Once a patient is diagnosed with WAS, the immediate and sometimes, the extended family need to be tested to determine carrier status. This is a time when parents are already dealing with their child who is sick and having to make important decisions. Parents and grandparents may experience feelings of guilt and may need to seek counseling. If the mother is a carrier, then parents will have concerns over the possibility of having another child who is affected with WAS. Girls who are born to mothers who are carriers have a 50% likelihood of being carriers themselves. Issues about the best age to bring up these discussions, when to get them tested etc are significant concerns for parents. A genetic counselor may be able to help with these decisions. Listed are some resources that can help parents and families to understand the genetics of the disease, locate geneticists and counselors and labs where testing is done.
    • Information Sources
    • Genetic Testing
    • Gene Tests: Provides medical genetics information, review articles on over 400 gene based disorders and has contact information for labs that provide testing services. Genetic testing can be very expensive and there may be occasions when an insurance company may not cover the testing. The National Institute of Health can provide free genetic testing for the diagnosis of Wiskott Aldrich Syndrome if patients are enrolled in trials at the NIH. Please contact Dr. Fabio Candotti at fabio@nhgri.nih.gov
    • Genetic testing in Hong Kong:
    • Genetic testing in Hungary:
    • DNA Banks