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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 CodeDNTC
Method

Flow cytometry is used to enumerate CD3+TCRαβ+CD4-CD8- DNT cells in whole blood as a screening test for ALPS.

Diagnostic Use / Indications

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.

External Price$254.32(Exclusive of GST)
  

Specimen Collection

 
Pre-Testing Requirements

Please contact laboratory before sending sample and control.  (03) 364 0413.

Specimen Collection Protocols

Use EDTA(Lavender) Test Tubes

Patient Specimen1 mL EDTA + same from healthy unrelated adult ctrl
Paediatric Specimen0.5 mL EDTA + same from healthy unrelated adult 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 Time3 days
Reference Interval

<1.5% = normal
1.5-2.5% = borderline
>2.5% = abnormal

Interpretation

Results are given as % CD4-/CD8- double negative cells (as a percentage of theCD3+TCRαβ+ population).

Additional Information

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, contact Myfanwy Spellerberg myfanwy.spellerberg@cdhb.health.nz.

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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