CD40L Expression/Upregulation (Screening for XHIGM)
BCH-CFCL
Immunophenotyping of CD40 Ligand (CD154)- positive T lymphocytes, which reports: CD3+CD8-CD154+, CD3+CD8-CD69+. Test Code: CD40 Ligand assay
CALGARY-CLS
CD40L (CD154) expression is assessed on CD3+4+8- cells after PMA/Ionomycin activation. Testing includes assessment of CD40 on B cells. Test Code: LINK
CCHMC-DIL
Evaluation of CD40L Upregulation (and ICOS Upregulation). Test Code: CD40L / ICOS
MAYO-ML
Evaluation of CD40L Upregulation, also includes assessment of binding to receptor using soluble CD40-muIg. Test Code: XHIM; #82964
MCW-CIRL
Measures CD40 expression on B cells and CD40L expression on activated CD4 cells. Test Code: HIGM
NJH-ADL
Analyzes CD40L expression in whole blood, gating on CD3+/CD8- T cells. Reports qualitative result – absent/present. Test Code: CD40L
DHR/Oxidative Burst (Screening for CGD)
ARUP
Neutrophil Oxidative Burst Assay (DHR). White blood cells are incubated with dihydrorhodamine 123 (DHR) and catalase, then stimulated with Phorbol 12-Myristate 13-Acetate (PMA). Dihydrorhodamine oxidation to rhodamine by the respiratory burst of the cell is measured by Semi-Quantitative Flow Cytometry. Test Code: 0096657
BCH-CFCL
Neutrophil’s Oxidative Burst, which reports: Neutrophil Oxidative Index (MFI DHR+ / MFI DHR-), and % Responding Polymorphonuclear Cells. Test Code: DHR assay
CALGARY-CLS
Functional CGD screening assay, using DHR123 loaded neutrophils pre and post stimulation with PMA to induce oxidative burst reaction. Test Code: NFUN
CCHMC-DIL
Classic dihydrorhodamine (DHR) 123 assay. Test Code: Neutrophil Oxidative Burst (DHR)
CHLA-DIFL
Chronic granulomatous disease diagnostic screening assay for oxidative burst using dihydrorhodamine (DHR) 123. Test Code: CGD Flow
IOWA
Classic dihydrorhodamine (DHR) 123 assay with PMA stimulation. Test Code: SPL8
MAYO-ML
Classic dihydrorhodamine (DHR) 123 assay. Test Codes: DHR (for both PMA and fMLP stimulants); #62764; DHRP (only for PMA); #62765; DHRF (only for fMLP); #62766.
MCW-CIRL
Classic dihydrorhodamine (DHR) 123 assay with PMA and fMLP stimulation. Test Code: NEUOXB
MONTREAL-SJH
Neutrophil’s oxidation (DHR) by flow cytometry. Test Code: Activité Oxidative des Neutrophiles
NJH-ADL
Classic dihydrorhodamine (DHR) 123 assay. Offers NBT assay as back up. Test Code: DHR; NBT
NSUH
Neutrophil oxidation assay uses dihydrorhodamine (DHR) 123 and PMA. Report includes MFI ratio. Test Code: DHR
QUEST
Neutrophil Function, Oxidative Burst. Classic dihydrorhodamine (DHR) 123 assay. Test Code 37523
UCLA-UIC
Classic dihydrorhodamine (DHR) 123 assay with PMA stimulation. Test Code: GOB
VIRACOR
Oxidative Burst: Whole blood is stimulated with PMA or buffer alone, Formation of the reactive oxidants during the oxidative burst is monitored by the addition and enzymatic oxidation of a fluorogenic substrate, DHR 123. The level of reactive oxygen radicals is determined by flow cytometry. Test Code: 403002
Toll-like Receptor Function (and Functional Screen for NEMO Deficiency)
ARUP
Toll-Like Receptor Function. Results for TNF alpha, IL-1 beta, IL-6, and CXCL10 are reported as pg/mL. Method: Cell Culture/Quantitative Multiplex Bead Assay. Test Code: 0051589
MCW-CIRL
Assay tests TLR4 function by assessing the ability of monocytes to produce TNF-α in response to LPS and MDP (to test XIAP function) stimulation. Test Code: TLREC
MONTREAL-SJH
TLR 3 activation in NK cells (CD69 and CD25 expression) by flow cytometry. Test Code: TLR3
TLR 2-4 activation: CD62L shedding assay (only local samples for technical reasons) and IL-6 and TNF secretion (ELISA). Test Code: TLR2-4
VIRACOR
Whole blood stimulation with multiple ligands, Lipoteichoic Acid (TLR2), Zymosan (TLR2/6), LPS (TLR4), Flagellin (TLR5), and Bacterial DNA (TLR9) followed by TNF-alpha analysis. Test Code: 403091
Functional Screen for XIAP Deficiency/XLP2
MCW-CIRL
Assay tests TLR4 function by assessing the ability of monocytes to produce TNF-α in response to LPS and MDP (to test XIAP function) stimulation. Test Code: TLREC
IL-10R Function Screen
MCW-CIRL
Assay measures the ability of IL-10 to suppress cytokine synthesis from monocytes, specifically the secretion of IL-6 in response to LPS stimulation. Detects functional defects due to IL10R deficiency. In addition, a dose response of IL10 can detect defects in STAT3 (Hyper-IgE). Test Code: CYTIBD
Mendelian Susceptibility to Mycobacterial Disease
MCW-CIRL
Measures pSTAT1 response to IFNγ and evaluation of IL-12Rβ1 (CD212) and IFNg receptor expression. Test Code: MSMD
MONTREAL-SJH
Two tests can be ordered:
1 - IL-12/gIFN cytokines secretion (ELISA).
2 - Measures of phosphorylation/dephosphorylation of STAT1 in response to gIFN by flow cytometry. Test Code (both): Étude functionnelle and indicate yourself
NJH-ADL
Phenotypic analysis of IFNγR1 and IL-12 (beta chain) receptors. Test Codes: IFNGR, IL12R
TH17 Assay
CALGARY-CLS
Measures % of Th17 cells in the CD3+4+ subset following stimulation with PMA/Ionomycin. Test Code: TH17
CCHMC-DIL
Quantifies CD4+ CCR6+ T cells in comparison to an age-based range, and measures IL-17 production following stimulation with Phorbol 12-Myristate 13 Acetate (PMA) and Ionomycin which allows quantitation of TH17 cells. Test Code: Th-17 Enumeration
MCW-CIRL
Assay measures T cell-specific IFNγ and IL-17 production by PMA/Ionomycin stimulated PBMCs. Test Code: THIL17
MONTREAL-SJH
Measures IL-17 production following stimulation with Phorbol 12-Myristate 13 Acetate (PMA) and Ionomycin in CD4 T cells. Test Code: Étude functionnelle and indicate yourself
NJH-ADL
Offers % of TH1 (IFNg) and TH17 (IL-17) CD4 T cells in PBMC following PMA/Ionomycin stimulation. Test Code: TH17C
SCID Screening (IL2RG and JAK3)
CALGARY-CLS
Functional assay in which peripheral blood T cells are stimulated with IL-6 to induce phosphorylation of STAT3 or alternatively, stimulation with IL-2 to induce phosphorylation of STAT5. Test Code: PSTAT3 or PSTAT5
CCHMC-DIL
Analyzes phosphorylation of STAT5 in peripheral blood lymphocytes following stimulation of peripheral blood mononuclear cells with IL-2. Test Code: pSTAT5
MONTREAL-SJH
Measures phosphorylation/dephosphorylation of STAT3 (IL10 and IL6-induced) and STAT5 (IL2, IL3, IL15, and GMCSF-induced) by flow cytometry. Test Code: Étude functionnelle and indicate yourself
Lymphocyte Apoptosis
CCHMC-DIL
Fas-mediated apoptosis assay. T cells are treated with APO-1-3 and protein A to induce cell death, following a 11 day culture, using Concanavalin A and IL-2. The % cell loss is calculated and reported. Test Code: Apoptosis (Fas, mediated)
GMCSF Receptor Function
CCHMC-DIL
Measurement of STAT5 phosphorylation following GMCSF stimulation. (GMCSF autoantibody testing also available.) Test Code: GM-CSF Receptor Stimulation
MONTREAL-SJH
Measures phosphorylation/dephosphorylation STAT5 (IL2, IL3, IL15, and GMCSF-induced) by flow cytometry. Test Code: Étude functionnelle and indicate yourself
NJH-ADL
ELISA measurement of GM-CSF autoantibodies, and reflex testing of P-STAT5 inhibition for positive samples. Test Code: GMCSFA