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Test Code LAB9615 X-Linked Hyper IgM Syndrome, Blood

Additional Codes

XHIM

Reporting Name

X-Linked Hyper IgM Syndrome, B

Useful For

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

 

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

WB Sodium Heparin


Shipping Instructions


Testing performed Monday through Friday. Specimens not received by 4 p.m. Central time on Fridays may be canceled.

 

Specimens arriving on the weekend and observed holidays may be canceled.

 

Collect and package specimen as close to shipping time as possible. It is recommended that specimens arrive within 24 hours of collection.



Necessary Information


The ordering healthcare professional's name and phone number are required.



Specimen Required


Container/Tube: Green top (sodium heparin)

Specimen Volume: 4 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.

Additional Information: For serial monitoring, it is recommended that specimen collection be performed at the same time of day.


Specimen Minimum Volume

1.2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
WB Sodium Heparin Ambient 72 hours GREEN TOP/HEP

Reference Values

Present

Day(s) Performed

Monday through Friday

CPT Code Information

88184-Flow cytometry, cell surface, cytoplasmic

88185 x 6-Each additional marker

Report Available

3 to 4 days

Reject Due To

Gross hemolysis Reject
Gross lipemia Reject

Method Name

Flow Cytometry

Genetics Test Information

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.