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Test Identifier Information

 
Registration CodeLIGA
Method

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.

Diagnostic Use / Indications

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.

External Price$369.64(Exclusive of GST)
  

Specimen Collection

 
Pre-Testing Requirements

Laboratory MUST be contacted before sample is taken (03) 364 0413.  1 week's notice is required.

Specimen Collection Protocols

 Use Heparin (Green) Test tubes.

Patient Specimen1 mL Heparin from pt + healthy unrelated ctrl
Paediatric Specimen0.5 mL Heparin from pt + healthy unrelated ctrl
Sample Delivery to LabAmbient temperature within 24h.
Aliquot Transport to CHLAmbient temperature within 24h.
  

CHLabs Laboratory

 
DepartmentBiochemistry - Immunology
Contact Details Email Email
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Contact Phone Number(03) 364 0414 | x80414
Turnaround Time1 week
Reference Interval

- Normal expression
- Weak expression
- Absent expression

Additional Information

Lymphocytes are also checked for CD25 levels to ensure adequate stimulatuion following incubation with PMA and PHA.


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