Wiskott-Aldrich Syndrome | Testing & Diagnosis

How is Wiskott-Aldrich syndrome diagnosed?

After gathering a complete medical history, your child's doctor may order one or more of the following tests to help diagnosis Wiskott-Aldrich syndrome:

  • a test that measures the amount of platelets (clotting agents) in his blood
  • a genetic test that reveals presence of a mutation in the Wiskott-Aldrich syndrome gene
  • a blood test that demonstrates absence of the Wiskott-Aldrich syndrome protein in the white blood cells
  • other blood tests as needed

Prenatal testing can also detect the gene mutation responsible for Wiskott-Aldrich syndrome.

If your child’s siblings are girls, it is extremely unlikely that they will also have Wiskott-Aldrich syndrome (though if she is a carrier, she can pass the mutation causing the disease on to her own sons). Because Wiskott-Aldrich syndrome is a genetic disorder, it is a good idea to ask your doctor about genetic counseling for yourself and your other children. Learn how the Genetics Program at Boston Children’s Hospital can help.