immune disorders
X Linked Lymphoproliferative Syndrome
Diagnosis of X Linked Lymphoproliferative Syndrome
Blood tests Genetic testing Sometimes bone marrow biopsy Doctors suspect X-linked lymphoproliferative syndrome in young boys who have severe EBV infection, other characteristic problems, or family members with similar symptoms. The diagnosis is confirmed by genetic testing. However, genetic testing can take weeks to complete, so doctors may do specialized blood tests, such as flow cytometry (analysis of proteins on the surface of white blood cells), to check for abnormalities in immune cells. Laboratory and imaging tests are done yearly to check for lymphoma and anemia. Sometimes a bone marrow biopsy is done for these reasons. Genetic testing is recommended for family members. Prenatal Diagnostic Testing is recommended for people if a mutation that causes X-linked lymphoproliferative syndrome has been identified in their family. 