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Hyper IgM Syndrome Panel, Sequencing (12 Genes) and Deletion/Duplication (10 Genes)

CPT Code(s): 81404 (CD40LG); 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:
  • AICDA, ATM, BTK, CD40, CD40LG, IKBKG, MRE11A, NBN/NBS1, NFKBIA, PIK3CD, RAG2, UNGGenes Deletion/Duplication: AICDA, ATM, BTK, CD40, CD40LG, MRE11A, NBN/NBS1, NFKBIA, RAG2, UNGGenes Sequenced: AICDA, ATM, BTK, CD40, CD40LG, IKBKG, MRE11A, NBN/NBS1, NFKBIA, PIK3CD, RAG2, UNGHIGM syndrome, HIGM1, HIGM2, HIGM3, HIGM4, HIGM5, immunoglobulin class-switch deficiency, NEMO
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