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A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeAPOP
Method

This is a two stage assay.  Firstly expression of surface Fas (CD95) is stimulated during culture with IL-2 and anti-CD3.  Secondly apoptosis is induced using an anti-Fas antibody.  Annexin V positive cells are enumerated using flow cytometry.

Diagnostic Use / Indications

Autoimmune lymphoproliferative syndrome (ALPS) is a human genetic disorder of lymphocyte apoptosis resulting in an accumulation of lymphocytes and childhood onset chronic lymphadenopathy, splenomegaly, multilineage cytopenias, and an increased risk of B-cell lymphoma.  ALPS is caused by mutations in Fas (CD95), Fas ligand and caspase 10.

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

Please collect 5 mL heparinised blood from the patient AND a healthy (unrelated) adult control.

Patient Specimen5mL Heparin(Green) blood from patient+healthy ctrl
Paediatric Specimen2 mL heparinised blood from patient + healthy ctrl
Sample Delivery to LabSend at ambient temperature to arrive within 24 h.
Aliquot Transport to CHLSend at ambient temperature to arrive within 24 h.
  

CHLabs Laboratory

 
DepartmentBiochemistry - Immunology
Contact Details Email Email
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Contact Phone Number(03) 364 0414 | x80414
Test AvailabilityPlease contact the laboratory before sending sample and control. (03) 364 0413.
Turnaround Time2 weeks
Reference Interval

- Normal apoptosis
- Low apoptosis
- Absent apoptosis

Interpretation

A normal result indicates the presence of functional Fas (CD95) and caspase 10 in patient lymphocytes.

Additional Information

This test measures functional Fas (CD95) activity but will not detect somatic Fas mutations, or mutations in Fas ligand (FasL).

Genetic testing for ALPS (sequencing of CD95, FasL, Casp10, Casp8, SH2D1A and promoter regions) is available at
Dept of Immunology, Camelia Botnar Laboratories, Great Ormond St. Hospital (contact Kimberly Gilmour Kimberly.Gilmour@gosh.nhs.uk) although there may also be centres in Australia.

Biomarkers from serum (sFasL, Vit B12, IL-18, IL-10) may also be useful in the diagnosis of ALPS1,2.  These are not currently available at CHL.

1.  Oliveira et al.  Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop.  Blood. 2010 Oct;116:35-40.

2.
  Caminha et al.  Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome.  J Allergy Clin Immunol. 2010;125:946-949.


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