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  • Test code: 08112
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Common Variable Immunodeficiency Panel

Test description

The Invitae Common Variable Immunodeficiency Panel analyzes genes that are associated with common variable immunodeficiency. These conditions are characterized by hypogammaglobulinemia, poor antibody response to vaccines, recurrent infections, inflammatory disorders or autoimmunity, and increased risk for malignancy.

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Primary panel (35 genes)

ARHGEF1 ATP6AP1 CD19 CD27 CD81 CR2 CTLA4 CXCR4 DCLRE1C ICOS IL21 IL21R IRF2BP2 JAK3 KDM6A KMT2D LRBA MS4A1 NFKB1 NFKB2 NSMCE3 PIK3CD PIK3R1 PLCG2 PRKCD RAC2 RAG1 RAG2 SH3KBP1 STAT3 STXBP2 TNFRSF13B TNFRSF13C TNFSF12 VAV1

Add-on Genes for Primary Immunodeficiencies That Can Mimic Common Variable Immunodeficiency (6 genes)

Recently, studies in the literature have reported patients that have been originally diagnosed with CVID, which later turned out to be different primary immunodeficiencies (PMID: 24726394, 25516070, 24996264, 26182690, 26476407, 27379089). Given that patients with these disorders may present with a CVID like phenotype, these genes can be included at no additional charge.

DCLRE1C GATA2 JAK3 RAG1 RAG2 STXBP2

Add-on Agammaglobulinemia/Hypogammaglobulinemia Genes (10 genes)

Patients with agammaglobulinemia or hypogammaglobulinemia can have immunoglobulin levels that look similar to CVID. Given the clinical overlap between patients with agammaglobulinemia or hypogammaglobulinemia and CVID, analyzing these genes may be appropriate. These genes can be included at no additional charge.

BLNK BTK CD79A CD79B GATA2 IGLL1 MOGS SH2D1A TRNT1 XIAP

Alternative tests to consider

  • monogenic common variable immunodeficiency

To view the complete clinical description of this panel, click here.

Conditions on this panel can occur in several inheritance patterns, including autosomal dominant, autosomal recessive, and X-linked.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ARHGEF1 NM_199002.1
ATP6AP1 NM_001183.5
BLNK NM_013314.3
BTK NM_000061.2
CD19 NM_001770.5
CD27 NM_001242.4
CD79A NM_001783.3
CD79B NM_000626.3
CD81 NM_004356.3
CR2 NM_001006658.2
CTLA4 NM_005214.4
CXCR4 NM_003467.2
DCLRE1C NM_001033855.2
GATA2 NM_032638.4
ICOS NM_012092.3
IGLL1 NM_020070.3
IL21 NM_021803.3
IL21R NM_021798.3
IRF2BP2 NM_182972.2
JAK3 NM_000215.3
KDM6A NM_021140.3
KMT2D NM_003482.3
LRBA NM_006726.4
MOGS NM_006302.2
MS4A1 NM_152866.2
NFKB1 NM_003998.3
NFKB2 NM_001077494.3
NSMCE3 NM_138704.3
PIK3CD NM_005026.3
PIK3R1 NM_181523.2
PLCG2 NM_002661.4
PRKCD NM_006254.3
RAC2 NM_002872.4
RAG1 NM_000448.2
RAG2 NM_000536.3
SH2D1A NM_002351.4
SH3KBP1 NM_031892.2
STAT3 NM_139276.2
STXBP2 NM_006949.3
TNFRSF13B NM_012452.2
TNFRSF13C NM_052945.3
TNFSF12 NM_003809.2
TRNT1 NM_182916.2
VAV1 NM_005428.3
XIAP NM_001167.3