Confirm genetic causes, attain better outcomes

For individuals affected by genetic disorders that impact the immune system, identifying the genetic underpinnings can help classify the disorder, clarify the disease course, and help direct treatment decisions. We offer a robust menu of assays for inborn errors of immunity.

Immunology Test menu

Bone marrow failure syndromes and inherited cytopenias

Bone marrow failure syndromes and inherited cytopenias may be isolated or present as part of a multisystem disorder. Although most cases are due to acquired (nongenetic) causes, recognition of an underlying inherited genetic condition allows for appropriate management and surveillance for disease features based on the gene involved.

Key testing

Combined immunodeficiency and B-cell/antibody deficiency

Our genetic panels for inborn errors of immunity (also known as primary immunodeficiency disorders) identify variants in genes associated with increased susceptibility to infections. Patients with inborn errors of immunity can be susceptible to specific organisms, and in some cases can develop lymphoproliferative disorders or autoimmune manifestations. Severe combined immunodeficiency (SCID) can initially be asymptomatic at birth but lead to life-threatening infections within several months. Early diagnosis is critical to select and initiate life-saving therapy.

Key testing

Disorders of immune dysregulation

Our genetic testing panels for immune dysregulation and autoinflammatory disorders are designed to assess patients with complex conditions that can present with multisystemic features of autoimmunity, autoinflammation, or lymphoproliferation and malignancy. These disorders often present in childhood but can develop at any age. Identification of variants within genes known to be associated with these conditions allows for targeted management and predictive testing of at-risk family members.

Key testing

Epstein Barr virus and other viral susceptibility

Certain individuals, due to genetic variation, are more susceptible to viruses. Our viral susceptibility testing provides a targeted and comprehensive analysis of genes associated with viral susceptibility. Establishing a genetic diagnosis of hereditary viral susceptibility enables optimized disease management as well as allows for predictive testing of at-risk family members.

Key testing

Monogenic/early onset inflammatory bowel disease

Our comprehensive monogenic inflammatory bowel disease (IBD) panel detects variants in 107 genes with established associations to early onset IBD, monogenic IBD, and primary immunodeficiencies that present with IBD-like features but do not respond to standard IBD treatments. This test includes genes associated with rare diseases that may also present with non-gastrointestinal features (e.g., familial Mediterranean fever and amyloidosis).

Key testing


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