Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication

2011156
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Example Reports
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Positive

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Patient History for Primary Antibody Deficiency

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Additional Technical Information
Ordering Recommendation

Determine the genetic etiology of a primary antibody deficiency (eg, agammaglobulinemia, hyper-IgM syndrome, or common variable immunodeficiency) in affected individuals.

Mnemonic
PAD PANEL
Methodology

Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray

Performed

Varies

Reported

3-6 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 (EDTA) or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
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, 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.

Hotline History
N/A
CPT Codes

81320; 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
  • 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
  • selective antibody deficiency
  • selective IgA deficiency
  • Selective IgM deficiency
  • TACI
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication