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

• SCCNP | Severe Congenital and Cyclic Neutropenia Gene Panel, Varies
• GATAS | GATA-Binding Protein 2, GATA2, Full Gene Analysis, Next-Generation Sequencing, Varies
• TELDP | Telomere Biology Disorders Gene Panel, Varies
• GNHTC | Hereditary Thrombocytopenia Gene Panel, Next-Generation Sequencing, Varies
• GNMTC | Macro/Microthrombocytopenia Gene Panel, Next-Generation Sequencing, Varies

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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

• BCELL | B-Cell and Antibody Deficiency Gene Panel, Varies
• BTKSG | Bruton Tyrosine Kinase, BTK Full Gene Analysis, Varies
• HIESG | Hyper-IgE Syndrome Gene Panel, Varies
• SCIDP | Severe Combined Immunodeficiency (SCID) Gene Panel, Varies

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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

• ALPSG | Autoimmune Lymphoproliferative Syndrome (ALPS) Gene Panel, Varies
• AUTOG | Autoinflammatory Disorders Gene Panel, Varies
• HLHGP | Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies
• IMMAU | Inborn Errors of Immunity with Immune Dysregulation and Autoimmunity Gene Panel, Varies

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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

• EBLPD | Epstein Barr Virus (EBV) Susceptibility and Lymphoproliferative Disorders Gene Panel, Varies
• VIRID | Viral Susceptibility, Defects in Intrinsic and Innate Immunity, Gene Panel, Varies

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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

• EIOBD | Early Onset Monogenic Inflammatory Bowel Disease (IBD) Gene Panel, Varies

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