Although present in other conditions, most ALPS patients have elevated CD4/CD8 double negative T-cells (DNTs) in the context of normal or elevated lymphocyte counts.
Please contact laboratory before sending sample and control. (03) 364 0413
Patient Specimen: 1 mL EDTA + same from healthy unrelated adult ctrl
Paediatric Specimen: 0.5 mL EDTA + same from healthy unrelated adult ctrl
Ambient (8 - 24 degrees Celsius)
Ambient temperature within 24h
<1.5% = normal
1.5-2.5% = borderline
>2.5% = abnormal
Results are given as % CD4–/CD8– double negative cells (as a percentage of theCD3+TCRαβ+ population).
Flow cytometry is used to enumerate CD3+TCRαβ+CD4-CD8- DNT cells in whole blood as a screening test for ALPS.
$264.60 (Exclusive of GST)
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.
To confirm a functional defect in the Fas (CD95) pathway, apoptosis testing is now available at Canterbury Health Laboratories
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.