Services & Specialties
Diagnostic Center for Heritable Immunodeficiencies

Rare Immune System Disorder Diagnosis and Testing

The Diagnostic Center for Heritable Immunodeficiencies (DCHI) at Cincinnati Children’s is the largest and most specialized center in North America for the diagnosis of rare primary immunodeficiencies, bone marrow failure syndromes and other disorders of the immune system. The DCHI has been recognized as a center of excellence by the Federation of Clinical Immunology Societies and the Jeffrey Modell Foundation.  

Expanded Immunology Exome

The Immunology Exome now includes a total of 442 genes. Our expanded gene list highlights genes associated with immunodeficiencies affecting cellular and humoral immunity, combined immunodeficiencies with associated or syndromic features, predominantly antibody deficiencies, diseases of immune dysregulation, congenital defects of phagocyte number or function, defects in intrinsic and innate immunity, autoinflammatory disorders, complement deficiencies, and phenocopies of inborn errors of immunity as categorized by the 2019 IUIS committee.  

Immunology Exome | Test Requisition

Next-generation sequencing (NGS) panels

Other disorders for which the DCHI offers rapid screening and genetic diagnostic testing include Wiskott-Aldrich syndrome (WAS), X-linked lymphoproliferative disease (XLP) and X-linked immune dysregulation, polyendocrinopathy enteropathy syndrome (IPEX).

> Visit our HLH Center of Excellence pages for more information about the treatment of hemophagocytic lymphohistiocytosis.

Why Choose Us

We offer the widest available choice of molecular and cellular diagnostic testing for heritable immunodeficiencies, bone marrow failure disorders and related diseases.  Our diagnostic tests are easy to order and results are timely and clinically relevant. 

Customized test results.

Test results are customized for each patient.  Clinical information is incorporated with the genetic and immunologic test results into a comprehensive report.  The clinical significance of test results is explained, and recommendations are provided for additional testing, if warranted, as well as for clinical management.

Consultation with recognized clinical experts.

DCHI has board-certified pediatric immunologists, molecular geneticists and genetic counselors to provide telephone or email consultations to referring physicians regarding test selection, clinical interpretation, medical management and follow-up testing, genetic counseling, and additional studies of at-risk family members.

Our Specialty Services

Go to the Molecular Genetics Laboratory web page.Molecular Genetics Laboratory
High-quality molecular genetic testing and sophisticated interpretation of results by clinical and genetics experts

Go to the Diagnostic Immunology Lab web page.Diagnostic Immunology Laboratory
Correlated functional assays for a wide range of immune diseases

Go to the Immune Deficiency and Histiocytosis web page.Immunodeficiencies and Histiocytosis Program (Clinical)
Experienced medical management including one of the country’s largest stem cell transplantation programs

Contact Us

Contact us.
You may contact the Diagnostic Center for Heritable Immunodeficiencies at Cincinnati Children’s at 513-636-4685 or

Clinical Laboratory Index

View all tests offered by Cincinnati Children’s.