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.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
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