Use to determine the genetic etiology of disease in individuals with a suspected or confirmed diagnosis of a primary antibody deficiency (eg, agammaglobulinemia, hyper-IgM syndrome, or common variable immunodeficiency). This test does not analyze B-cell expression or immunoglobulin levels and is not recommended for individuals who have not had previous clinical testing for immunodeficiencies.
Massively Parallel Sequencing/Sequencing
New York DOH Approval Status
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 3 mL)
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
Genes Tested: ADA; ADA2; AICDA; ATM; ATP6AP1; BLNK; BTK; CARD11; CD19; CD27; CD40; CD40LG; CD70; CD79A; CD79B; CDCA7; CR2; CTLA4; CXCR4*; DCLRE1C*; DNMT3B; GATA2; HELLS; ICOS; IGHM; IGLL1; IKZF1; IL21R; KDM6A; KMT2D; LRBA; MOGS; MS4A1; NBN; NFKB1; NFKB2; NFKBIA**; PIK3CD; PIK3R1; PLCG2; PRKCD; RAC2; RAG1; RAG2; RNF168; SH2D1A; STAT3; TCF3**; TNFRSF13B; TRNT1; TTC37; UNG; XIAP*; ZBTB24
*One or more exons are not covered by sequencing for the indicated gene; see limitations section below.
**Deletion/duplication analysis is not available for this gene.
81403; 81404; 81405; 81406; 81408; 81479
|Component Test Code*||Component Chart Name||LOINC|
|2011220||Primary Antibody Deficiency Specimen||31208-2|
|2011223||Primary Antibody Deficiency Panel Interp|
- Anti-polysaccharide antibody deficiency
- Autoimmune conditions
- B-cell deficiency
- Common variable hypogammaglobulinemia
- Common variable immune deficiency
- Common variable immunodeficiency
- Genetic antibody deficiency
- HIGM syndrome
- Hyper-IgM syndrome
- IgA deficiency
- IgG deficiency
- IgG subclass deficiency
- Immunoglobulin class-switch deficiency
- Late-onset combined immunodeficiency
- Late-onset immunoglobulin deficiency
- Recurrent infections
- Selective antibody deficiency
- Selective IgA deficiency
- Selective IgM deficiency