Testing & Diagnosis for Wiskott-Aldrich Syndrome in Children

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Contact the Division of Allergy and Immunology

A diagnosis of Wiskott-Aldrich syndrome (WAS) is usually made based on:

  • a complete medical history and physical examination of your child
  • a test that measures the amount of platelets (clotting agents) in his blood
  • a genetic test that reveals presence of a mutation in the WAS gene
  • a blood test that demonstrates absence of the WAS protein in the white blood cells
  • other blood tests as needed

Prenatal testing can also detect the gene mutation responsible for WAS.

If your child’s siblings are girls, it is extremely unlikely that they will also have WAS (though if she is a carrier, she can pass the mutation causing the disease on to her own sons). Because WAS 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 can help.

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