Inherited immunodeficiencies represent a heterogeneous group of rare disorders characterized by impaired humoral and/or cell-mediated immunity, in the absence of any recognized cause such as drug treatment or human immunodeficiency virus (HIV). Common variable immunodeficiency (CVID) is the most common immunodeficiency syndrome with variable clinical manifestations that include an increased susceptibility to chronic infections, granulomatous disease, and a predisposition to develop lymphoma. Lymphomas, including both Hodgkin lymphoma (HL) and non-Hodgkin lymphoma (NHL), represent a diverse group of diseases that arise from a clonal proliferation of lymphocytes. Hodgkin lymphoma is a rare B-cell derived cancer and constitutes about 10% of all lymphoma cases.  Non-Hodgkin lymphomas, which account for over 90% of all lymphomas, represent a heterogeneous group of cancers, 85–90% of which arise from B lymphocytes; the remainder derive from T lymphocytes or natural killer cells. Several studies have suggested that an abnormal immune response to infection may play a role in the pathogenesis of lymphomas. Epstein-Barr virus has also been implicated in the etiology of lymphomas in multiple epidemiological and serologic studies, and the Epstein-Barr virus genome has been detected in tumor specimens.  This test is specifically designed to detect germline pathogenic variants and is not appropriate for the detection of somatic variants in tumor tissue. The panel includes sequence and deletion/duplication analysis of all the listed genes.  

Institutional Price 
$3,000.00
TAT 
6 weeks
CPT Code 
81443
Test Code 
5158
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Additional Information 
Variants within exon 15 of the PMS2 gene may not be analyzed or reported due to homology issues. Due to high homology, the sensitivity of this assay may be reduced in exon 2 and exons 12-15 of PMS2.