X linked hyper-IgM (XHIM) syndrome is a primary immunodeficiency caused by mutations in the tumour necrosis factor superfamily 5 gene, TNFSF5, also known as the CD40 ligand (CD40L) or CD154 gene. Patients often present with recurrent infections, and confirmation of a diagnosis of XHIM enables appropriate therapeutic interventions, including replacement immunoglobulin, antibiotics, and bone marrow transplantation.
Phone lab and send direct to immunology or after hours place into immunology bin at room temperature
Laboratory MUST be contacted before sample is taken (03) 364 0413. 1 week's notice is required.
Patient sample: 1 mL Heparin from pt + healthy unrelated ctrl
Paediatric sample: 0.5 mL Heparin from pt + healthy unrelated ctrl
Ambient (8 - 24 degrees Celsius)
Ambient temperature within 24h.
– Normal expression
– Weak expression
– Absent expression
Whole blood is incubated overnight with PMA (phorbol 12-myristate 13-acetate) and PHA (phytohaemagglutinin-L) to stimulate lymphocytes, which are then stained with the appropriate antibodies and the red blood cells lysed. Flow cytometry is used to determine whether CD40L is expressed on the activated lymphocytes.
$395.95 (Exclusive of GST)
Lymphocytes are also checked for CD25 levels to ensure adequate stimulation following incubation with PMA and PHA.
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