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Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes)

CPT Code(s): 81404 x2 (CD40LG, SH2D1A); 81406 (BTK); 81408 (ATM), 81479 x2
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.
Stability:Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York DOH Approval Status: Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Aliases:
  • ADA, AICDA, ATM, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, ICOS, IGHMAgammaglobulinemia, panhypogammaglobulinemia, Hyper-IgM syndrome, HIGM syndrome, HIGM1, HIGM2, HIGM3Anti-polysaccharide antibody deficiency, late-onset combined immunodeficiencyCD21, Lambda-5, NEMO, CD20, CD45CD79B, CD81, CR2, ICOS, IGHM, IGLL1, MRE11A, MS4A1, NBN/NBS1, NFKB2, NFKBIACD81, CR2, ICOS, IGHM, IGLL1, IKBKG, LRBA, LRRC8A, MRE11A, MS4A1, NBN/NBS1Common variable hypogammaglobulinemia, IgA deficiency, selective IgA deficiencyCVID, common variable immunodeficiency, common variable immune deficiencyGenes Deletion/Duplication:  ADA, AICDA, ATM, BLNK, BTK, CD19, CD40, CD40LG, CD79AGenes Sequenced: ADA, AICDA, ATM, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79BHIGM4, HIGM5, immunoglobulin class-switch deficiency, selective antibody deficiencyIGLL1, IKBKG, LRBA, LRRC8A, MRE11A, MS4A1, NBN/NBS1, NFKB2, NFKBIA, PIK3CD, PIK3R1Late-onset immunoglobulin deficiency, B-cell deficiency, genetic antibody deficiency, TACI, BAFFRNFKB2, NFKBIA, PIK3CD, PIK3R1, PLCG2, PRKCD, PTPRC, RAG2, SH2D1A, TNFRSF13BPLCG2, PRKCD, PTPRC, RAG2, SH2D1A, TNFRSF13B, TNFRSF13C, UNG, VAV1, XIAP/BIRC4PTPRC, RAG2, TNFRSF13B, TNFRSF13C, UNG, VAV1Selective IgM deficiency, IgG deficiency, IgG subclass deficiency, hypogammaglobulinemiaTNFRSF13C, UNG, VAV1, XIAP/BIRC4
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