Ordering Recommendation

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.

Mnemonic

PAD PANEL

Methodology

Massively Parallel Sequencing/Sequencing

Performed

Varies

Reported

3 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

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.

Compliance Category

Laboratory Developed Test (LDT)

Note

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.

Hotline History

N/A

CPT Codes

81403; 81404; 81405; 81406; 81408; 81479

Components

Component Test Code* Component Chart Name LOINC
2011220 Primary Antibody Deficiency Specimen 31208-2
2011223 Primary Antibody Deficiency Panel Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Agammaglobulinemia
  • Anti-polysaccharide antibody deficiency
  • Autoimmune conditions
  • B-cell deficiency
  • BAFFR
  • CD20
  • CD21
  • CD45
  • Common variable hypogammaglobulinemia
  • Common variable immune deficiency
  • Common variable immunodeficiency
  • CVID
  • Genetic antibody deficiency
  • HIGM syndrome
  • HIGM1
  • HIGM2
  • HIGM3
  • HIGM4
  • HIGM5
  • Hyper-IgM syndrome
  • Hypogammaglobulinemia
  • IgA deficiency
  • IgG deficiency
  • IgG subclass deficiency
  • Immunoglobulin class-switch deficiency
  • Lambda-5
  • Late-onset combined immunodeficiency
  • Late-onset immunoglobulin deficiency
  • NEMO
  • Panhypogammaglobulinemia
  • Recurrent infections
  • Selective antibody deficiency
  • Selective IgA deficiency
  • Selective IgM deficiency
  • TACI
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication