Alert

Published on December 09, 2019

Hyper IgM (HIGM)

Tube Type

Test ID LAB6748
EPIC Order HYPER IGM (HIGM)
CPT Code(s) 81479
Group/Individual Test Individual
Laboratory Molecular Immunology Laboratory
Tube Station 30
Specimen Routine: blood/lavender top; 3.0 mL minimum volume
Availability Routine: Monday-Friday
Turnaround Time 14 days
Reference Range Interpretation
Comments

Genes Targeted:

CD40LG UNG
AICDA CD40

The Hyper IgM sequencing assay was performed using capture probes targeting 4 genes with mutations covering approximately 95% of Hyper IgM cases [1]. Large insertions and deletions/duplications will not be detected using this assay.

Captured genes were sequenced using Illumina technology. The assay focuses on exonic regions harboring known disease-causing mutations. Detection of insertions or deletions of greater than 2 basepairs has not been assessed.

This test was developed and its performance characteristics validated by the Molecular Immunology laboratory. It has not been cleared nor approved by the FDA.

References:

[1]         Johnson J, Filipovich AH, Zhang K. X-Linked Hyper IgM Syndrome. 2007 May 31 [Updated 2013 Jan 24]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1402/#

Please call lab (984-974-4057) with questions.

Reviewed by Christopher Parker on December 09, 2019

Note: Reference ranges provided on this web site are for guidance only, and may not reflect the most recent changes. Refer to laboratory reports for current reference data.

UNC Hospitals
McLendon Clinical Laboratories
101 Manning Drive
Chapel Hill, NC 27514

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