Test ID: XHIM    
X-Linked Hyper IgM Syndrome, Blood

Useful For Suggests clinical disorders or settings where the test may be helpful

Screening for X-linked hyper-IgM (XL-HIGM) or CD40L deficiency, primarily in male patients younger than 10 years of age

 

Ascertaining XL-HIGM carrier status in women of child-bearing age (younger than 45 years old)

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

CD40LG is located on the long arm of the X-chromosome (Xq 21.3-22) and encodes the surface protein CD40 ligand (CD154). It is critical for the formation of germinal centers and, therefore, class switch recombination and somatic hypermutation. More than 100 unique genetic variants of CD40LG have been described. The observed variants are scattered throughout the gene but are more prevalent in exon 5.

Method Name A short description of the method used to perform the test

Flow Cytometry

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

No

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

X-Linked Hyper IgM Syndrome, B

Aliases Lists additional common names for a test, as an aid in searching

CD154
CD40 Activation
CD40 Ligand
Memory Cells
T cell Activation
IgM (Immunoglobulin)