To diagnose Wiskott Aldrich syndrome – WAS, a doctor will do a blood test. In boys with WAS, the blood will show low numbers of platelets. The platelets that appear will be smaller than normal. In boys older than 2 years, tests of blood and skin cells will show problems with immune system functions. To be certain of the diagnosis, a doctor can also do a genetic test to look for a mutation of the gene that is linked to WAS.
Families affected by WAS may want to talk with a genetic counselor about family planning and the chances of having children with the disorder. In a family already affected by WAS, a test for the WAS gene mutation can be done during pregnancy (prenatal testing). An early diagnosis can enable early treatment and improve a child’s chances of a good outcome.