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  • Test code: 08111
  • 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 Agammaglobulinemia Panel

Test description

The Invitae Agammaglobulinemia Panel analyzes genes that are associated with agammaglobulinemia or hypogammaglobulinemia. These conditions are characterized by recurrent bacterial infections occurring at an early age, small or absent tonsils and lymph nodes on physical examination and very low levels of immunoglobulins and B cells in serum.

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Primary panel (35 genes)

BLM BLNK BTK CCBE1 CD19 CD27 CD79A CD79B CD81 CDC42 CDCA7 DNMT3B FAT4 GATA2 HELLS ICOSLG IGLL1 IL2RB IRF2BP2 IRF4 KMT2A LIG1 LRRC8A MOGS MYSM1 OAS1 PIK3R1 SEC61A1 SH2D1A SLC39A7 TCF3 TOP2B TRNT1 XIAP ZBTB24

Add-on Hypogammaglobulinemia Genes (5 genes)

GATA2 deficiency, MOGS-congenital disorder of glycosylation (CDG-IIb), X-linked lymphoproliferative disorder, and TRNT1 can all cause hypogammaglobulinemia. Given the clinical overlap between patients with agammaglobulinemia and hypogammaglobulinemia, analyzing these genes may be appropriate. These genes can be included at no additional charge.

GATA2 MOGS SH2D1A TRNT1 XIAP

Add-on Common Variable Immunodeficiency Genes (20 genes)

Patients with CVID can have immunoglobulin levels that look similar to agammaglobulinemia or hypogammaglobulinemia. 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.

CD27 CR2 CTLA4 DCLRE1C ICOS IL21 IL21R JAK3 LRBA NFKB2 PIK3CD PLCG2 PRKCD RAC2 RAG1 STAT3 STXBP2 TNFRSF13B TNFRSF13C TNFSF12

Alternative tests to consider

  • agammaglobulinemia and hypogammaglobulinemia

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
BLM NM_000057.3
BLNK NM_013314.3
BTK NM_000061.2
CCBE1 NM_133459.3
CD19 NM_001770.5
CD27 NM_001242.4
CD79A NM_001783.3
CD79B NM_000626.3
CD81 NM_004356.3
CDC42 NM_001791.3
CDCA7 NM_031942.4
CR2 NM_001006658.2
CTLA4 NM_005214.4
DCLRE1C NM_001033855.2
DNMT3B NM_006892.3
FAT4 NM_024582.4
GATA2 NM_032638.4
HELLS NM_018063.4
ICOS NM_012092.3
ICOSLG NM_015259.5
IGLL1 NM_020070.3
IL21 NM_021803.3
IL21R NM_021798.3
IL2RB NM_000878.3
IRF2BP2 NM_182972.2
IRF4 NM_002460.3
JAK3 NM_000215.3
KMT2A NM_001197104.1
LIG1 NM_000234.2
LRBA NM_006726.4
LRRC8A NM_019594.3
MOGS NM_006302.2
MYSM1 NM_001085487.2
NFKB2 NM_001077494.3
OAS1 NM_016816.3
PIK3CD NM_005026.3
PIK3R1 NM_181523.2
PLCG2 NM_002661.4
PRKCD NM_006254.3
RAC2 NM_002872.4
RAG1 NM_000448.2
SEC61A1 NM_013336.3
SH2D1A NM_002351.4
SLC39A7 NM_001077516.1
STAT3 NM_139276.2
STXBP2 NM_006949.3
TCF3 NM_003200.4; NM_001136139.3
TNFRSF13B NM_012452.2
TNFRSF13C NM_052945.3
TNFSF12 NM_003809.2
TOP2B* NM_001068.3
TRNT1 NM_182916.2
XIAP NM_001167.3
ZBTB24 NM_014797.2

TOP2B: Deletion/duplication analysis is not offered for exon 5.