2011156
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Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication

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Example Reports
Negative
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Informed Consent for Genetic Testing (Required for NY Patients)

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Patient History for Primary Antibody Deficiency Genetic Testing

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Additional Technical Information

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.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

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)
New York State Clients: 5 mL (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
New York State Clients: Ambient: 48 hours; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing / Sequencing

Performed

Varies

Reported

14-21 days

Reference Interval

Refer to report

Interpretive Data

Refer to report.

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.

When testing cord blood specimens, the presence of maternal cell contamination (MCC) is possible, which may impact result interpretation. If clinically warranted, testing for MCC is available, at a charge, through ARUP Laboratories.

Hotline History

N/A

CPT Codes

81403; 81404; 81405; 81406; 81408; 81479

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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