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

• Autoimmune lymphoproliferative syndrome (ALPS)
• Bone marrow failure syndromes, including Diamond-Blackfan anemia, Shwachman-Diamond syndrome and congenital amegakaryocytic thrombocytopenia
• Chromosome breakages disorders, including ataxia-telangiectasia, Bloom syndrome, Fanconi anemia, and Nijmegen / Nijmegen-like disorders
• Dyskeratosis congenita
• Fanconi anemia
• Hemophagocytic lymphohistiocytosis (HLH)
• Inherited neutropenias
• Severe combined immunodeficiency (SCID)

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.