Invitae Common Variable Immunodeficiency Panel
Use
The Invitae Common Variable Immunodeficiency Panel analyzes genes associated with common variable immunodeficiency (CVID), characterized by hypogammaglobulinemia, poor antibody response to vaccines, recurrent infections, inflammatory disorders or autoimmunity, and increased risk for malignancy. This panel provides a broad evaluation for CVID, which is genetically heterogeneous, allowing assessment of many potentially relevant genes based on a single clinical indication. CVID presents with decreased serum IgG levels, often alongside decreased IgA and/or IgM, leading to increased susceptibility to infections and potential development of autoimmune diseases and malignancies.
Special Instructions
This panel is intended for patients displaying clinical signs of hypogammaglobulinemia after four years of age or those with signs of immune system deficiency, such as recurrent infections and poor response to vaccines. The laboratory performing this test is CAP-accredited and CLIA-certified, ensuring high quality analysis.
Limitations
The panel uses next-generation sequencing (NGS) with high sensitivity for detecting single nucleotide variants and deletions/duplications. However, certain types of variants and structural rearrangements may not be detected due to sequencing limitations. The assay covers coding exons and adjacent intronic regions but does not guarantee detection in non-coding regions or for structural rearrangements. Additionally, in rare cases involving hematolymphoid neoplasms or recent transplants, the analyzed DNA may not reflect the patient's constitutional genome.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant