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Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication
2011156
Ordering Recommendation

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

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.

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.
ARUP Consult®
Disease Topics
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.

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

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

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
View Hotline History
CPT Code(s)
Components
Component Test Code*Component Chart NameLOINC
2011220Primary Antibody Deficiency Specimen31208-2
2011223Primary 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