CD40L assay
Also known as: Hyper IgM; HIGM XIGM
All requests for CD40L assays must be discussed with the Laboratory's medical staff and/or Senior Clinical Scientist.
CD40-ligand (CD40L) expression aids diagnosis of suspected Hyper IgM Syndrome Type 1 (HIGM1 or XHIM). In HIGM1, mutations in the CD40L gene lead to either very low or absent expression of CD40L on activated CD3 T cells.
HIGM1 presents with recurrent bacterial infections, usually of the upper respiratory tract. They may also get opportunistic infections, such as Pneumocystis carinii pneumonia (PCP- (although the causative organism has been renamed Pneumocystis jiroveci). Patients usually have a normal or high IgM with low or absent IgA and IgG.
Specimen requirements
A minimum of 1ml Heparinised blood samples are required and must be received in the immunology laboratory within 8 hours post venepuncture and before 11am. Samples must not have been refrigerated or centrifuged.
Cost
Price on application
Laboratory turnaround time
3 working days
Laboratory method
FACSCanto
Reference range/units
N/A
Associated tests
N/A
Shipping and storage
Ambient temperature and first class post. Hays DX users please enquire via email below.
Samples must be received in the Immunology Laboratory within 8 hours of venepuncture. Samples must NOT have been refrigerated or centrifuged and must arrive before 11am.
Local venepuncture may be arranged (please contact a senior member of staff).
Further information and contact details
For further information, email immunology.office@nhs.net