Tests Offered
The Diagnostic Center for Heritable Immunodeficiencies at Cincinnati Children's Hospital Medical Center performs molecular and cellular diagnostic testing for heritable immunodeficiencies and related disorders. Doctors need not be affiliated with Cincinnati Children's to order tests.
Molecular testing is available for the following inherited immunodeficiencies and lymphoproliferative disorders:
Information regarding indications for testing, test methodology, sample requirements and CPT codes, as well as a test requisition, can be accessed from the links provided.
Autoimmune lymphoproliferative syndrome
- FAS (TNFRSF6)
- FASLG
- CASP10
Familial hemophagocytic lymphohistiocytosis
- PRF1
- MUNC13-4
- STX11
- RAB27A (Griscelli syndrome type 2)
IPEX (X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome)
Severe Congenital Neutropenia and cyclic neutropenia
- ELA2
- HAX1 (Kostmann syndrome)
- WAS
Wiskott-Aldrich Syndrome (WAS)
X-linked lymphoproliferative disease (XLP)
X-linked hyper IgM syndrome (XHM)
X-linked severe combined immunodeficiency (XSCID)
Immunologic testing for these disorders is also available through the Diagnostic Immunology Laboratory.
