Determine the genetic etiology of a primary antibody deficiency (eg, agammaglobulinemia, hyper-IgM syndrome, or common variable immunodeficiency) in affected individuals.
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
Lavender (EDTA) or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
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, CD81, CDCA7**, CR2, CTLA4**, CXCR4***, DCLRE1C, DNMT3B**, GATA2**, HELLS**, ICOS, IGHM, IGLL1, IKBKG**, IKZF1, IL21**, IL21R**, INO80**, IRF2BP2, KDM6A**, KMT2D**, LRBA**, LRRC8A**, MALT1**, MAP3K14**, MOGS**, MS4A1, NBN, NFKB1**, NFKB2, NFKBIA, PIK3CD**, PIK3CG**, PIK3R1**, PLCG2**, PRKCD**, RAC2, RAG1, RAG2, RNF168**, SH2D1A**, STAT3, TCF3**, TNFRSF13B, TNFRSF13C, TNFSF12**, TRNT1**, TTC37**, UNG, VAV1, XIAP**, ZBTB24**
** Deletion/duplication detection is not available for this gene.
*** One or more exons are not covered by sequencing, and deletion/duplication detection is not available for this gene; see Additional Technical Information.
81320; 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
- 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
- selective antibody deficiency
- selective IgA deficiency
- Selective IgM deficiency